| geneid | 57406 |
|---|---|
| ensemblid | ENSG00000163686.15 |
| hgncid | 21398 |
| symbol | ABHD6 |
| name | abhydrolase domain containing 6, acylglycerol lipase |
| refseq_nuc | NM_001320126.2 |
| refseq_prot | NP_001307055.1 |
| ensembl_nuc | ENST00000478253.6 |
| ensembl_prot | ENSP00000420315.1 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 58237792 |
| end | 58294734 |
| strand | + |
| ver | v1.2 |
| region | chr3:58237792-58294734 |
| region5000 | chr3:58232792-58299734 |
| regionname0 | ABHD6_chr3_58237792_58294734 |
| regionname5000 | ABHD6_chr3_58232792_58299734 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:58294044
|
G | C | 0.8874 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 10/10 | c.*279G>C | 279 | |||||
|
chr3:58294334
|
T | C | 0.8841 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 10/10 | c.*569T>C | 569 | |||||
|
chr3:58294584
|
A | G | 0.3411 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(100): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(5): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(99): Show | 103 | 302 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 10/10 | c.*819A>G | 819 | |||||
|
chr3:58294679
|
A | G | 0.3080 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(90): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(89): Show | 93 | 302 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 10/10 | c.*914A>G | 914 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:58253687
|
G | A | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0035 | 1 | 302 | 0.0033 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | c.-25-2875G>A | ||||||
|
chr3:58274433
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(87): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(86): Show | 90 | 302 | 0.2980 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | c.524-225C>T | ||||||
|
chr3:58276014
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.681+1199A>G | ||||||
|
chr3:58278167
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.681+3352A>G | ||||||
|
chr3:58278392
|
G | A | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0035 | 1 | 302 | 0.0033 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.681+3577G>A | ||||||
|
chr3:58279086
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(88): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(87): Show | 91 | 302 | 0.3013 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.681+4271G>A | ||||||
|
chr3:58281676
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.682-3409T>C | ||||||
|
chr3:58284010
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(88): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(87): Show | 91 | 302 | 0.3013 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | c.682-1075C>G | ||||||
|
chr3:58285236
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 8/9 | c.736+97T>C | ||||||
|
chr3:58285851
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+398C>T | ||||||
|
chr3:58286025
|
GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(259): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(252): Show | 262 | 302 | 0.8676 | -1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+585delT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58286121
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(258): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(251): Show | 261 | 302 | 0.8642 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+668G>A | ||||||
|
chr3:58286251
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(89): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(88): Show | 92 | 302 | 0.3046 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+798C>T | ||||||
|
chr3:58286444
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+991A>C | ||||||
|
chr3:58286828
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(143): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0019others(140): Show | 146 | 302 | 0.4834 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1375G>A | ||||||
|
chr3:58286848
|
G | GTATATAT others(39): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00609.hp2 others(27): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0014others(1): Show | a0001c0001t0002g0073a0001c0001t0002g0074a0001c0001t0002g0082others(27): Show | 30 | 302 | 0.0993 | 46 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1396_837+1397insATATATATATATATGTATATATATATATATATATATATATGTGTAT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58286850
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(220): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(216): Show | 223 | 302 | 0.7384 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1397G>A | ||||||
|
chr3:58286852
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(260): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(253): Show | 263 | 302 | 0.8709 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1399G>A | ||||||
|
chr3:58286870
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(260): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(253): Show | 263 | 302 | 0.8709 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1417G>A | ||||||
|
chr3:58286908
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1455T>C | ||||||
|
chr3:58286912
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+1459T>C | ||||||
|
chr3:58288016
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+2563T>A | ||||||
|
chr3:58288088
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+2635G>A | ||||||
|
chr3:58288613
|
C | CACTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 4 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+3163_837+3164insAACT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58289228
|
A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+3783dupT | INFO_REALIGN_3_PRIME | |||||
|
chr3:58289322
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+3869G>A | ||||||
|
chr3:58289458
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+4005G>A | ||||||
|
chr3:58289488
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.837+4035T>C | ||||||
|
chr3:58289842
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-3747A>G | ||||||
|
chr3:58289968
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(88): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(87): Show | 91 | 302 | 0.3013 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-3621C>T | ||||||
|
chr3:58290206
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-3383T>C | ||||||
|
chr3:58290214
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-3375G>A | ||||||
|
chr3:58290358
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-3231T>C | ||||||
|
chr3:58290446
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(263): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(256): Show | 266 | 302 | 0.8808 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-3143T>C | ||||||
|
chr3:58290513
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(262): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(255): Show | 265 | 302 | 0.8775 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-3076A>G | ||||||
|
chr3:58290587
|
T | TGGCTGCC others(33): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(250): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(244): Show | 253 | 302 | 0.8378 | 40 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-2967_838-2966insGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGAC | INFO_REALIGN_3_PRIME | |||||
|
chr3:58291064
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-2525A>G | ||||||
|
chr3:58291201
|
A | AC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 1 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-2385dupC | INFO_REALIGN_3_PRIME | |||||
|
chr3:58291216
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(89): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(88): Show | 92 | 302 | 0.3046 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-2373A>G | ||||||
|
chr3:58291244
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-2345A>G | ||||||
|
chr3:58291248
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-2341T>C | ||||||
|
chr3:58291774
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-1815A>C | ||||||
|
chr3:58291802
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-1787C>G | ||||||
|
chr3:58291809
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(89): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(88): Show | 92 | 302 | 0.3046 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-1780A>G | ||||||
|
chr3:58291819
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-1770G>A | ||||||
|
chr3:58291994
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-1595A>G | ||||||
|
chr3:58292517
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(264): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(257): Show | 267 | 302 | 0.8841 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-1072A>G | ||||||
|
chr3:58293058
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(88): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0012a0001c0001t0002g0015others(87): Show | 91 | 302 | 0.3013 | 0 | ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | c.838-531C>A |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 1/1 | a0001 | 337 | 298 | 94 | 67 | 87 | 12 | 36 | subcellular location copy fasta | chr3 | 58232792 | 58299734 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 1/1 | c0001 | 1014 | 298 | 94 | 67 | 87 | 12 | 36 | copy fasta | chr3 | 58232792 | 58299734 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 0/0 | t0009 | 1185 | 5 | 0 | 2 | 0 | 3 | 0 | copy fasta | chr3 | 58232792 | 58299734 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 0/0 | g0035 | 1 | 0 | 0 | 0 | 1 | 0 | chr3 | 58232792 | 58299734 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 1/1 | a0001c0001 | 298 | 94 | 67 | 87 | 12 | 36 | 1014 | copy fasta | chr3 | 58232792 | 58299734 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 0/0 | a0001c0001t0009 | 5 | 0 | 2 | 0 | 3 | 0 | 2198 | copy fasta | chr3 | 58232792 | 58299734 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD6 | 0/0 | a0001c0001t0009g0035 | 1 | 0 | 0 | 0 | 1 | 0 | chr3 | 58232792 | 58299734 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 58237916 | + | 1 | -0.8891 | -0.8891 | -0.8891 | 0.0000 | acceptor | a0001c0001t0009g0035 | HG00099.hp2 | HG00099.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58249878 | + | 2 | 0.4979 | 0.4979 | 0.4979 | 0.0000 | donor | a0001c0001t0009g0035 | HG00099.hp2 | HG00099.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58249942 | + | 2 | -0.6119 | -0.6119 | -0.6119 | 0.0000 | acceptor | a0001c0001t0009g0035 | HG00099.hp2 | HG00099.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58256562 | + | 3 | 0.9660 | 0.9660 | 0.9660 | 0.0000 | donor | a0001c0001t0009g0035 | HG00099.hp2 | HG00099.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58256705 | + | 3 | -0.9731 | -0.9731 | -0.9731 | 0.0000 | acceptor | a0001c0001t0009g0035 | HG00099.hp2 | HG00099.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58267189 | + | 4 | 0.9845 | 0.9845 | 0.9845 | 0.0000 | donor | a0001c0001t0009g0035 | HG00099.hp2 | HG00099.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58267345 | + | 4 | -0.9726 | -0.9726 | -0.9726 | 0.0000 | acceptor | a0001c0001t0009g0035 | HG00099.hp2 | HG00099.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58269321 | + | 5 | 0.9935 | 0.9935 | 0.9935 | 0.0000 | donor | a0001c0001t0009g0035 | HG00099.hp2 | HG00099.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58269434 | + | 5 | -0.9971 | -0.9971 | -0.9971 | 0.0000 | acceptor | a0001c0001t0009g0035 | HG00099.hp2 | HG00099.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58270932 | + | 6 | 0.9956 | 0.9956 | 0.9956 | 0.0000 | donor | a0001c0001t0009g0035 | HG00099.hp2 | HG00099.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58271064 | + | 6 | -0.9906 | -0.9906 | -0.9906 | 0.0000 | acceptor | a0001c0001t0009g0035 | HG00099.hp2 | HG00099.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58274658 | + | 7 | 0.9847 | 0.9847 | 0.9847 | 0.0000 | donor | a0001c0001t0009g0035 | HG00099.hp2 | HG00099.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58274815 | + | 7 | -0.9857 | -0.9857 | -0.9857 | 0.0000 | acceptor | a0001c0001t0009g0035 | HG00099.hp2 | HG00099.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58285085 | + | 8 | 0.9911 | 0.9911 | 0.9911 | 0.0000 | donor | a0001c0001t0009g0035 | HG00099.hp2 | HG00099.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58285139 | + | 8 | -0.9888 | -0.9888 | -0.9888 | 0.0000 | acceptor | a0001c0001t0009g0035 | HG00099.hp2 | HG00099.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58285353 | + | 9 | 0.9585 | 0.9585 | 0.9585 | 0.0000 | donor | a0001c0001t0009g0035 | HG00099.hp2 | HG00099.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58285453 | + | 9 | -0.9969 | -0.9969 | -0.9969 | 0.0000 | acceptor | a0001c0001t0009g0035 | HG00099.hp2 | HG00099.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| 58293589 | + | 10 | 0.8027 | 0.8027 | 0.8027 | 0.0000 | donor | a0001c0001t0009g0035 | HG00099.hp2 | HG00099.hp2 | ABHD6 | chr3 | 58232792 | 58299734 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:58278167
|
c.681+3352A>G | Hemoglobin levels0.017 | a0001a0002a0003a0004 | a0001c0001a0002c0002a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0007others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0013others(256): Show | HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 others(263): Show |
Predicted loss and gain of function mutations in A others(39): Show |
684,122 European ancestry individuals/ | ABHD6, PXK, RPP14 | ABHD6 | rs7431952-A | + | MODIFIER | chr3 | A | G |
|
chr3:58296849
|
c.*3084T>C | Platelet count0.03046284 | a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0007a0001c0001t0008others(6): Show | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(125): Show | HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00544.hp1 HG00558.hp1 others(126): Show |
The Allelic Landscape of Human Blood Cell Trait Va others(44): Show |
166,066 European ancestry individuals/ | ABHD6 | ABHD6 - RPP14 | rs6445967-C | + | MODIFIER | chr3 | T | C |
|
chr3:58297769
|
c.*4004C>A | Height | a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(118): Show | HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00544.hp1 HG00558.hp1 others(119): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 458,000 European ancestry individual others(2): Show |
ABHD6 - RPP14 | rs59760856-? | + | MODIFIER | chr3 | C | A | |
|
chr3:58297769
|
c.*4004C>A | Educational attainment0.0810722 | a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(118): Show | HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00544.hp1 HG00558.hp1 others(119): Show |
Polygenic prediction of educational attainment wit others(88): Show |
3,037,499 European ancestry individuals/ | ABHD6 - RPP14 | rs59760856-A | + | MODIFIER | chr3 | C | A | |
|
chr3:58294963
|
c.*1198A>G | Serum uric acid levels0.0108 | a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0007a0001c0001t0008others(6): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0023others(118): Show | HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00544.hp1 HG00558.hp1 others(119): Show |
A cross-population atlas of genetic associations f others(24): Show |
343,836 European ancestry individuals, 129,405 Eas others(29): Show |
ABHD6 | rs9857570-G | + | MODIFIER | chr3 | A | G |
