| geneid | 116988 |
|---|---|
| ensemblid | ENSG00000133612.20 |
| hgncid | 16923 |
| symbol | AGAP3 |
| name | ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 |
| refseq_nuc | NM_031946.7 |
| refseq_prot | NP_114152.3 |
| ensembl_nuc | ENST00000397238.7 |
| ensembl_prot | ENSP00000380413.2 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 151086475 |
| end | 151144434 |
| strand | + |
| ver | v1.2 |
| region | chr7:151086475-151144434 |
| region5000 | chr7:151081475-151149434 |
| regionname0 | AGAP3_chr7_151086475_151144434 |
| regionname5000 | AGAP3_chr7_151081475_151149434 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr7:151086813
|
C | CG | 0.9718 | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(332): Show | 344 | 354 | 1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.73dupG | p.Ala25fs | 341/3494 | 74/2736 | 25/911 | INFO_REALIGN_3_PRIME | |
|
chr7:151086821
|
C | CG | 0.9972 | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.81dupG | p.Gln28fs | 349/3494 | 82/2736 | 28/911 | INFO_REALIGN_3_PRIME | |
|
chr7:151086824
|
A | G | 0.9972 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.83A>G | p.Gln28Arg | 350/3494 | 83/2736 | 28/911 | ||
|
chr7:151086830
|
T | G | 0.9972 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.89T>G | p.Leu30Arg | 356/3494 | 89/2736 | 30/911 | ||
|
chr7:151086831
|
C | CG | 0.9972 | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 1 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.91dupG | p.Val31fs | 359/3494 | 92/2736 | 31/911 | INFO_REALIGN_3_PRIME | |
|
chr7:151086833
|
T | G | 0.9972 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.92T>G | p.Val31Gly | 359/3494 | 92/2736 | 31/911 | ||
|
chr7:151086835
|
T | G | 0.9972 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.94T>G | p.Cys32Gly | 361/3494 | 94/2736 | 32/911 | ||
|
chr7:151143353
|
A | T | 0.0028 | missense_variant | MODERATE | HG00140.hp1 | a0006 | a0006c0015 | a0006c0015t0001 | a0006c0015t0001g0124 | 1 | 354 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 17/18 | c.2286A>T | p.Glu762Asp | 2553/3494 | 2286/2736 | 762/911 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr7:151086816
|
T | G | 0.9972 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.75T>G | p.Ala25Ala | 342/3494 | 75/2736 | 25/911 | ||
|
chr7:151086819
|
C | G | 0.9972 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.78C>G | p.Ala26Ala | 345/3494 | 78/2736 | 26/911 | ||
|
chr7:151086834
|
C | G | 0.9972 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0 | AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | c.93C>G | p.Val31Val | 360/3494 | 93/2736 | 31/911 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AGAP3 | 0/0 | a0006 | 912 | 1 | 0 | 0 | 0 | 1 | 0 | subcellular location copy fasta | chr7 | 151081475 | 151149434 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AGAP3 | 0/0 | c0015 | 2739 | 1 | 0 | 0 | 0 | 1 | 0 | copy fasta | chr7 | 151081475 | 151149434 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AGAP3 | 0/0 | a0006c0015 | 1 | 0 | 0 | 0 | 1 | 0 | 2739 | copy fasta | chr7 | 151081475 | 151149434 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 151087072 | + | 1 | -0.9425 | -0.9425 | -0.9425 | 0.0000 | acceptor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151116793 | + | 2 | 0.9966 | 0.9966 | 0.9966 | 0.0000 | donor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151116851 | + | 2 | -0.9986 | -0.9986 | -0.9986 | 0.0000 | acceptor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151117095 | + | 3 | 0.9984 | 0.9983 | 0.9984 | 0.0000 | donor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151117182 | + | 3 | -0.9981 | -0.9981 | -0.9981 | 0.0000 | acceptor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151117371 | + | 4 | 0.9932 | 0.9932 | 0.9932 | 0.0000 | donor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151117456 | + | 4 | -0.9872 | -0.9872 | -0.9872 | 0.0000 | acceptor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151117636 | + | 5 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151117777 | + | 5 | -0.8925 | -0.8925 | -0.8925 | 0.0000 | acceptor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151118210 | + | 6 | 0.9986 | 0.9986 | 0.9986 | 0.0000 | donor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151118344 | + | 6 | -0.9845 | -0.9845 | -0.9845 | 0.0000 | acceptor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151118505 | + | 7 | 0.9964 | 0.9964 | 0.9964 | 0.0000 | donor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151118632 | + | 7 | -0.9971 | -0.9971 | -0.9971 | 0.0000 | acceptor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151119987 | + | 8 | 0.9978 | 0.9978 | 0.9978 | 0.0000 | donor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151120145 | + | 8 | -0.9994 | -0.9994 | -0.9994 | 0.0000 | acceptor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151123794 | + | 9 | 0.9994 | 0.9994 | 0.9994 | 0.0000 | donor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151123886 | + | 9 | -0.9863 | -0.9863 | -0.9863 | 0.0000 | acceptor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151128580 | + | 10 | 0.9889 | 0.9889 | 0.9889 | 0.0000 | donor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151128684 | + | 10 | -0.9837 | -0.9837 | -0.9837 | 0.0000 | acceptor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151134400 | + | 11 | 0.9084 | 0.9084 | 0.9084 | 0.0000 | donor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151134568 | + | 11 | -0.9800 | -0.9800 | -0.9800 | 0.0000 | acceptor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151138143 | + | 12 | 0.4456 | 0.4456 | 0.4456 | 0.0000 | donor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151138313 | + | 12 | -0.6894 | -0.6894 | -0.6894 | 0.0000 | acceptor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151139979 | + | 13 | 0.8503 | 0.8503 | 0.8503 | 0.0000 | donor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151140116 | + | 13 | -0.9713 | -0.9713 | -0.9713 | 0.0000 | acceptor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151141898 | + | 14 | 0.9918 | 0.9918 | 0.9918 | 0.0000 | donor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151142052 | + | 14 | -0.9918 | -0.9918 | -0.9918 | 0.0000 | acceptor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151142163 | + | 15 | 0.9973 | 0.9973 | 0.9973 | 0.0000 | donor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151142253 | + | 15 | -0.9992 | -0.9992 | -0.9992 | 0.0000 | acceptor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151142412 | + | 16 | 0.9950 | 0.9950 | 0.9950 | 0.0000 | donor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151142634 | + | 16 | -0.9942 | -0.9942 | -0.9942 | 0.0000 | acceptor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151143341 | + | 17 | 0.9959 | 0.9959 | 0.9959 | 0.0000 | donor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151143596 | + | 17 | -0.9974 | -0.9974 | -0.9974 | 0.0000 | acceptor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 151143737 | + | 18 | 0.9294 | 0.9294 | 0.9294 | 0.0000 | donor | a0006c0015 | HG00140.hp1 | HG00140.hp1 | AGAP3 | chr7 | 151081475 | 151149434 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 151086831:splice 151086831:variant goto | c.91dupGp.Val31fs | 3910649 | Benign | AGAP3:116988 | SO:0001589 frameshift_variant,SO:0001623 5_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:CN169374 | + | 7 | 19 | 28 | 344 | a0001a0003a0004a0005a0006others(2): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(339): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(348): Show |
HIGH | chr7 | C | CG | TogoVar |
| 151086833:splice 151086833:variant goto | c.92T>Gp.Val31Gly | 3910650 | Likely_benign | AGAP3:116988 | SO:0001583 missense_variant,SO:0001623 5_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:CN169374 | + | 7 | 19 | 28 | 344 | a0001a0003a0004a0005a0006others(2): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(339): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(348): Show |
MODERATE | chr7 | T | G | TogoVar |
| 151086835:splice 151086835:variant goto | c.94T>Gp.Cys32Gly | 3910652 | Likely_benign | AGAP3:116988 | SO:0001583 missense_variant,SO:0001623 5_prime_UTR_variant,SO:0001627 intron_variant |
MedGen:CN169374 | + | 7 | 19 | 28 | 344 | a0001a0003a0004a0005a0006others(2): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(339): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(348): Show |
MODERATE | chr7 | T | G | TogoVar |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr7:151101893
|
c.331+14821G>A | Body mass index | a0001a0004a0006a0007 | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0017others(167): Show | HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 others(172): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 458,000 European ancestry individual others(2): Show |
AGAP3 | rs749319-? | + | MODIFIER | chr7 | G | A | |
|
chr7:151097517
|
c.331+10463delA | Appendicular lean mass0.0426245 | a0001a0004a0005a0006a0007 | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0018others(155): Show | HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 others(160): Show |
Genome-wide Associations Reveal Human-Mouse Geneti others(58): Show |
181,862 European ancestry elderly individuals/ | NR | AGAP3 | rs755081222-C | + | MODIFIER | chr7 | CA | C |
|
chr7:151103652
|
c.332-13141A>G | Response to vandetanib | a0001a0004a0006a0007a0008 | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(287): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 others(296): Show |
High-throughput screening and genome-wide analyses others(142): Show |
680 lymphoblastoid cell lines from Han Chinese anc others(145): Show |
AGAP3 | rs10273337-? | + | MODIFIER | chr7 | A | G | |
|
chr7:151098522
|
c.331+11450G>A | Cortical surface area | a0001a0004a0005a0006a0007others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(288): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 others(297): Show |
Vertex-wise multivariate genome-wide association s others(76): Show |
35,657 White British ancestry individuals/ | NR | AGAP3 | rs7385751-G | + | MODIFIER | chr7 | G | A |
|
chr7:151101893
|
c.331+14821G>A | Body mass index0.0099 | a0001a0004a0006a0007 | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0017others(167): Show | HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 others(172): Show |
Genomics and phenomics of body mass index reveals others(26): Show |
1,122,049 European ancestry individuals/ | AGAP3 | rs749319-G | + | MODIFIER | chr7 | G | A | |
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chr7:151104151
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c.332-12642A>G | Height0.0123 | a0001a0005a0006 | a0001c0001a0001c0003a0001c0004a0005c0012a0006c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0020a0001c0001t0001g0026others(69): Show | HG00140.hp1 HG00408.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 others(73): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
AGAP3 | rs4725991-G | + | MODIFIER | chr7 | A | G | |
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chr7:151130120
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c.1326+1436A>G | Height0.0045 | a0001a0004a0005a0006a0007others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(22): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(315): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 others(324): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
AGAP3 | rs6943608-A | + | MODIFIER | chr7 | A | G | |
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chr7:151088234
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c.331+1162C>T | Estimated glomerular filtration rate (creatinine)others(14): Show | a0001a0004a0006a0007 | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0015others(168): Show | HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 others(173): Show |
Epigenomic and transcriptomic analyses define core others(64): Show |
1,205,871 European ancestry individuals, 168,300 E others(384): Show |
AGAP3 | rs6464126-T | + | MODIFIER | chr7 | C | T | |
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chr7:151098522
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c.331+11450G>A | Vertex-wise cortical surface area7.6 | a0001a0004a0005a0006a0007others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(288): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 others(297): Show |
The genetic architecture of human cortical folding others(1): Show |
33,748 European ancestry individuals/ | AGAP3 | rs7385751-G | + | MODIFIER | chr7 | G | A | |
|
chr7:151098522
|
c.331+11450G>A | Vertex-wise sulcal depth8.75 | a0001a0004a0005a0006a0007others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(288): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 others(297): Show |
The genetic architecture of human cortical folding others(1): Show |
33,748 European ancestry individuals/ | AGAP3 | rs7385751-G | + | MODIFIER | chr7 | G | A | |
|
chr7:151101893
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c.331+14821G>A | Body mass index0.0154197 | a0001a0004a0006a0007 | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0017others(167): Show | HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 others(172): Show |
New role of fat-free mass in cancer risk linked wi others(26): Show |
342,566 European ancestry individuals/ | AGAP3 | rs749319-A | + | MODIFIER | chr7 | G | A |