| geneid | 344807 |
|---|---|
| ensemblid | ENSG00000206531.12 |
| hgncid | 24665 |
| symbol | CD200R1L |
| name | CD200 receptor 1 like |
| refseq_nuc | NM_001199215.3 |
| refseq_prot | NP_001186144.1 |
| ensembl_nuc | ENST00000488794.6 |
| ensembl_prot | ENSP00000418413.1 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 112815711 |
| end | 112846864 |
| strand | - |
| ver | v1.2 |
| region | chr3:112815711-112846864 |
| region5000 | chr3:112810711-112851864 |
| regionname0 | CD200R1L_chr3_112815711_112846864 |
| regionname5000 | CD200R1L_chr3_112810711_112851864 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:112827459
|
C | A | 0.2378 | missense_variant | MODERATE | HG00099.hp1 HG00558.hp1 HG00639.hp1 others(94): Show |
a0002a0005 | a0002c0003a0005c0008 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(2): Show | a0002c0003t0001g0010a0002c0003t0001g0011a0002c0003t0001g0017others(61): Show | 97 | 408 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 5/8 | c.275G>T | p.Arg92Leu | 873/1603 | 275/753 | 92/250 | ||
|
chr3:112837703
|
GAAGGTGC others(534): Show |
G | 0.0172 | splice_acceptor_variant others(5): Show |
HIGH | HG01106.hp1 HG02723.hp2 HG02976.hp2 others(4): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0004a0004c0005t0004 | a0002c0003t0004g0136a0004c0005t0004g0014a0004c0005t0004g0135 | 7 | 408 | -541 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 3/8 | c.-86-234_-18+238del |
| 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 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:112816210
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00738.hp1 others(68): Show |
a0002a0003a0005 | a0002c0003a0003c0004a0005c0008 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(3): Show | a0002c0003t0001g0010a0002c0003t0001g0011a0002c0003t0001g0028others(42): Show | 71 | 408 | 0.1740 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 7/7 | c.741-235C>T | ||||||
|
chr3:112816562
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(186): Show | 344 | 408 | 0.8431 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 7/7 | c.741-587A>G | ||||||
|
chr3:112817508
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0012others(216): Show | 406 | 408 | 0.9951 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 7/7 | c.741-1533C>G | ||||||
|
chr3:112817837
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(186): Show | 344 | 408 | 0.8431 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 7/7 | c.741-1862C>G | ||||||
|
chr3:112817917
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00639.hp1 others(69): Show |
a0002a0003a0005 | a0002c0003a0003c0004a0005c0008 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(3): Show | a0002c0003t0001g0010a0002c0003t0001g0011a0002c0003t0001g0028others(43): Show | 72 | 408 | 0.1765 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 7/7 | c.740+1855C>T | ||||||
|
chr3:112820145
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00639.hp1 others(78): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0002a0002c0003t0001a0002c0003t0002others(4): Show | a0001c0001t0002g0022a0001c0001t0002g0123a0001c0001t0002g0124others(50): Show | 81 | 408 | 0.1985 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 6/7 | c.617-250G>A | ||||||
|
chr3:112821053
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01074.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0002a0002c0003t0002a0002c0003t0004others(2): Show | a0001c0001t0002g0022a0001c0001t0002g0123a0001c0001t0002g0124others(16): Show | 27 | 408 | 0.0662 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 6/7 | c.617-1158A>G | ||||||
|
chr3:112821651
|
GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(186): Show | 344 | 408 | 0.8431 | -1 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 6/7 | c.617-1757delA | ||||||
|
chr3:112821729
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00639.hp1 others(103): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0002a0002c0003t0001a0002c0003t0002others(4): Show | a0001c0001t0002g0022a0001c0001t0002g0123a0001c0001t0002g0124others(68): Show | 106 | 408 | 0.2598 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 6/7 | c.617-1834T>C | ||||||
|
chr3:112822913
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01074.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0002a0002c0003t0002a0002c0003t0004others(2): Show | a0001c0001t0002g0022a0001c0001t0002g0123a0001c0001t0002g0124others(19): Show | 32 | 408 | 0.0784 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 6/7 | c.617-3018A>T | ||||||
|
chr3:112823114
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(194): Show | 356 | 408 | 0.8726 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 6/7 | c.617-3219C>T | ||||||
|
chr3:112823269
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00639.hp1 others(83): Show |
a0002a0003a0005 | a0002c0003a0003c0004a0005c0008 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(3): Show | a0002c0003t0001g0010a0002c0003t0001g0011a0002c0003t0001g0028others(54): Show | 86 | 408 | 0.2108 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 6/7 | c.617-3374G>C | ||||||
|
chr3:112823839
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00639.hp1 others(83): Show |
a0002a0003a0005 | a0002c0003a0003c0004a0005c0008 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(3): Show | a0002c0003t0001g0010a0002c0003t0001g0011a0002c0003t0001g0028others(54): Show | 86 | 408 | 0.2108 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 6/7 | c.616+3154C>G | ||||||
|
chr3:112823921
|
G | GGCTAAAG others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(194): Show | 356 | 408 | 0.8726 | 13 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 6/7 | c.616+3071_616+3072insTTCTCTCTTTAGC | ||||||
|
chr3:112823971
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(353): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(194): Show | 356 | 408 | 0.8726 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 6/7 | c.616+3022C>T | ||||||
|
chr3:112825252
|
TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00639.hp1 others(88): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0003a0004c0005others(2): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(6): Show | a0001c0001t0001g0102a0001c0001t0001g0106a0002c0003t0001g0010others(57): Show | 91 | 408 | 0.2230 | -1 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 6/7 | c.616+1740delT | ||||||
|
chr3:112825520
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00639.hp1 others(82): Show |
a0002a0005 | a0002c0003a0005c0008 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(2): Show | a0002c0003t0001g0010a0002c0003t0001g0011a0002c0003t0001g0028others(53): Show | 85 | 408 | 0.2083 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 6/7 | c.616+1473C>T | ||||||
|
chr3:112825711
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01106.hp2 others(20): Show |
a0002a0005 | a0002c0003a0005c0008 | a0002c0003t0002a0002c0003t0004a0005c0008t0001 | a0002c0003t0002g0021a0002c0003t0002g0036a0002c0003t0002g0037others(12): Show | 23 | 408 | 0.0564 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 6/7 | c.616+1282C>G | ||||||
|
chr3:112825995
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00639.hp1 others(102): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0003a0004c0005others(2): Show | a0001c0001t0002a0002c0003t0001a0002c0003t0002others(6): Show | a0001c0001t0002g0022a0001c0001t0002g0123a0001c0001t0002g0124others(67): Show | 105 | 408 | 0.2574 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 6/7 | c.616+998G>A | ||||||
|
chr3:112828232
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00639.hp1 others(94): Show |
a0002a0005 | a0002c0003a0005c0008 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(2): Show | a0002c0003t0001g0010a0002c0003t0001g0011a0002c0003t0001g0017others(61): Show | 97 | 408 | 0.2378 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 4/7 | c.50-548C>T | ||||||
|
chr3:112828314
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00639.hp1 others(94): Show |
a0002a0004a0005others(1): Show | a0002c0003a0004c0005a0005c0008others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(5): Show | a0002c0003t0001g0010a0002c0003t0001g0011a0002c0003t0001g0028others(61): Show | 97 | 408 | 0.2378 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 4/7 | c.50-630C>T | ||||||
|
chr3:112828539
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00639.hp1 others(94): Show |
a0002a0005 | a0002c0003a0005c0008 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(2): Show | a0002c0003t0001g0010a0002c0003t0001g0011a0002c0003t0001g0017others(61): Show | 97 | 408 | 0.2378 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 4/7 | c.49+780A>G | ||||||
|
chr3:112828649
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(331): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0033others(189): Show | 334 | 408 | 0.8186 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 4/7 | c.49+670G>T | ||||||
|
chr3:112828754
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(274): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0062others(155): Show | 277 | 408 | 0.6789 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 4/7 | c.49+565C>T | ||||||
|
chr3:112830498
|
G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(157): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0088others(76): Show | 160 | 408 | 0.3922 | 1 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 3/7 | c.-17-1115dupA | ||||||
|
chr3:112830799
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00639.hp1 others(94): Show |
a0002a0005 | a0002c0003a0005c0008 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(2): Show | a0002c0003t0001g0010a0002c0003t0001g0011a0002c0003t0001g0017others(61): Show | 97 | 408 | 0.2378 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 3/7 | c.-17-1415T>G | ||||||
|
chr3:112830880
|
GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00639.hp1 others(85): Show |
a0002a0005 | a0002c0003a0005c0008 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(2): Show | a0002c0003t0001g0010a0002c0003t0001g0011a0002c0003t0001g0028others(55): Show | 88 | 408 | 0.2157 | -1 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 3/7 | c.-17-1497delT | ||||||
|
chr3:112832894
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0012others(216): Show | 406 | 408 | 0.9951 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 3/7 | c.-17-3510A>G | ||||||
|
chr3:112834234
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(289): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0012others(147): Show | 292 | 408 | 0.7157 | -1 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 3/7 | c.-18+3707delA | ||||||
|
chr3:112835746
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(269): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0062others(151): Show | 272 | 408 | 0.6667 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 3/7 | c.-18+2196A>G | ||||||
|
chr3:112838488
|
AC | A | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01106.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0002c0003t0004a0002c0003t0005others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0062others(12): Show | 25 | 408 | 0.0613 | -1 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 2/7 | c.-86-479delG | ||||||
|
chr3:112840400
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(274): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0033others(154): Show | 277 | 408 | 0.6789 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 2/7 | c.-86-2390A>C | ||||||
|
chr3:112841507
|
T | G | intron_variant | MODIFIER | HG01106.hp1 HG02145.hp2 HG02723.hp2 others(6): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0004a0004c0005t0001a0004c0005t0004 | a0002c0003t0004g0136a0004c0005t0001g0134a0004c0005t0001g0137others(2): Show | 9 | 408 | 0.0221 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 2/7 | c.-86-3497A>C | ||||||
|
chr3:112842544
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(269): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0062others(151): Show | 272 | 408 | 0.6667 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 2/7 | c.-87+3135C>T | ||||||
|
chr3:112842566
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00544.hp1 others(125): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(6): Show | a0001c0001t0001g0154a0001c0001t0001g0157a0001c0001t0001g0158others(63): Show | 128 | 408 | 0.3137 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 2/7 | c.-87+3113G>A | ||||||
|
chr3:112843823
|
AAC | A | intron_variant | MODIFIER | HG01106.hp1 HG02145.hp2 HG02723.hp2 others(6): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0004a0004c0005t0001a0004c0005t0004 | a0002c0003t0004g0136a0004c0005t0001g0134a0004c0005t0001g0137others(2): Show | 9 | 408 | 0.0221 | -2 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 2/7 | c.-87+1854_-87+1855delGT | ||||||
|
chr3:112844072
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0062others(88): Show | 177 | 408 | 0.4338 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 2/7 | c.-87+1607C>T | ||||||
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chr3:112845234
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T | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0062others(88): Show | 177 | 408 | 0.4338 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 2/7 | c.-87+445A>C | ||||||
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chr3:112845443
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A | G | intron_variant | MODIFIER | HG01106.hp1 HG02145.hp2 HG02723.hp2 others(6): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0004a0004c0005t0001a0004c0005t0004 | a0002c0003t0004g0136a0004c0005t0001g0134a0004c0005t0001g0137others(2): Show | 9 | 408 | 0.0221 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 2/7 | c.-87+236T>C | ||||||
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chr3:112845954
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T | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(269): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0062others(151): Show | 272 | 408 | 0.6667 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 1/7 | c.-358-4A>T | ||||||
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chr3:112846226
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A | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(269): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0062others(151): Show | 272 | 408 | 0.6667 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 1/7 | c.-358-276T>G | ||||||
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chr3:112846326
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(276): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0062others(157): Show | 279 | 408 | 0.6838 | 0 | CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 1/7 | c.-359+299A>C |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CD200R1L | 0/0 | a0002 | 250 | 96 | 51 | 15 | 18 | 1 | 11 | subcellular location copy fasta | chr3 | 112810711 | 112851864 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CD200R1L | 0/0 | c0003 | 753 | 96 | 51 | 15 | 18 | 1 | 11 | copy fasta | chr3 | 112810711 | 112851864 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CD200R1L | 0/0 | t0004 | 782 | 7 | 6 | 1 | 0 | 0 | 0 | copy fasta | chr3 | 112810711 | 112851864 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CD200R1L | 0/0 | g0136 | 1 | 1 | 0 | 0 | 0 | 0 | chr3 | 112810711 | 112851864 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CD200R1L | 0/0 | a0002c0003 | 96 | 51 | 15 | 18 | 1 | 11 | 753 | copy fasta | chr3 | 112810711 | 112851864 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CD200R1L | 0/0 | a0002c0003t0004 | 1 | 1 | 0 | 0 | 0 | 0 | 1534 | copy fasta | chr3 | 112810711 | 112851864 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CD200R1L | 0/0 | a0002c0003t0004g0136 | 1 | 1 | 0 | 0 | 0 | 0 | chr3 | 112810711 | 112851864 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 112845679 | - | 2 | -0.0870 | -0.0870 | -0.0870 | 0.0000 | acceptor | a0002c0003t0004g0136 | NA18522.hp1 | NA18522.hp1 | CD200R1L | chr3 | 112810711 | 112851864 |
| 112837942 | - | 3 | 0.0000 | 0.0000 | 0.0000 | 0.0000 | acceptor | a0002c0003t0004g0136 | NA18522.hp1 | NA18522.hp1 | CD200R1L | chr3 | 112810711 | 112851864 |
| 112838010 | - | 3 | 0.0000 | 0.0000 | 0.0000 | 0.0000 | donor | a0002c0003t0004g0136 | NA18522.hp1 | NA18522.hp1 | CD200R1L | chr3 | 112810711 | 112851864 |
| 112829319 | - | 4 | -0.7412 | -0.7412 | -0.7412 | 0.0000 | acceptor | a0002c0003t0004g0136 | NA18522.hp1 | NA18522.hp1 | CD200R1L | chr3 | 112810711 | 112851864 |
| 112829384 | - | 4 | 0.6925 | 0.6925 | 0.6925 | 0.0000 | donor | a0002c0003t0004g0136 | NA18522.hp1 | NA18522.hp1 | CD200R1L | chr3 | 112810711 | 112851864 |
| 112827367 | - | 5 | -0.9814 | -0.9814 | -0.9814 | 0.0000 | acceptor | a0002c0003t0004g0136 | NA18522.hp1 | NA18522.hp1 | CD200R1L | chr3 | 112810711 | 112851864 |
| 112827684 | - | 5 | 0.9749 | 0.9749 | 0.9749 | 0.0000 | donor | a0002c0003t0004g0136 | NA18522.hp1 | NA18522.hp1 | CD200R1L | chr3 | 112810711 | 112851864 |
| 112826993 | - | 6 | -0.9817 | -0.9817 | -0.9817 | 0.0000 | acceptor | a0002c0003t0004g0136 | NA18522.hp1 | NA18522.hp1 | CD200R1L | chr3 | 112810711 | 112851864 |
| 112827241 | - | 6 | 0.9923 | 0.9923 | 0.9923 | 0.0000 | donor | a0002c0003t0004g0136 | NA18522.hp1 | NA18522.hp1 | CD200R1L | chr3 | 112810711 | 112851864 |
| 112819772 | - | 7 | -0.6885 | -0.6885 | -0.6885 | 0.0000 | acceptor | a0002c0003t0004g0136 | NA18522.hp1 | NA18522.hp1 | CD200R1L | chr3 | 112810711 | 112851864 |
| 112819895 | - | 7 | 0.5592 | 0.5592 | 0.5592 | 0.0000 | donor | a0002c0003t0004g0136 | NA18522.hp1 | NA18522.hp1 | CD200R1L | chr3 | 112810711 | 112851864 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:112835746
|
c.-18+2196A>G | Cell surface glycoprotein CD200 receptor 1 levelsothers(14): Show | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0009a0002c0003a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0007a0001c0002t0001others(12): Show | a0001c0001t0001g0012a0001c0001t0001g0030a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0001g0066others(149): Show | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 others(267): Show |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | CD200R1L | rs9847365-T | - | MODIFIER | chr3 | T | C | |
|
chr3:112821053
|
c.617-1158A>G | Relapse after allogeneic hematopoietic cell transplantation (recipient effect)others(42): Show | a0001a0002a0003a0005 | a0001c0001a0002c0003a0003c0004a0005c0008 | a0001c0001t0002a0002c0003t0002a0002c0003t0004a0003c0004t0001a0005c0008t0001 | a0001c0001t0002g0022a0001c0001t0002g0123a0001c0001t0002g0124a0001c0001t0002g0125a0001c0001t0002g0126others(14): Show | HG00099.hp1 HG00738.hp1 HG01074.hp2 HG01106.hp2 HG01346.hp2 others(22): Show |
Genetic Associations with Immune-mediated Outcomes others(53): Show |
789 European ancestry unrelated recipients/526 Eur others(35): Show |
CD200R1L | rs144502976-C | - | MODIFIER | chr3 | T | C |