rs879255539
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CTGTG;CTGTG) | 0 | common in clinvar |
Make rs879255539(AGA;AGA) |
Make rs879255539(AGA;CTGTG) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 19003070 |
Gene | ADGRG2, LOC101928415 |
is a | snp |
is | mentioned by |
dbSNP | rs879255539 |
dbSNP (classic) | rs879255539 |
ClinGen | rs879255539 |
ebi | rs879255539 |
HLI | rs879255539 |
Exac | rs879255539 |
Gnomad | rs879255539 |
Varsome | rs879255539 |
LitVar | rs879255539 |
Map | rs879255539 |
PheGenI | rs879255539 |
Biobank | rs879255539 |
1000 genomes | rs879255539 |
hgdp | rs879255539 |
ensembl | rs879255539 |
geneview | rs879255539 |
scholar | rs879255539 |
rs879255539 | |
pharmgkb | rs879255539 |
gwascentral | rs879255539 |
openSNP | rs879255539 |
23andMe | rs879255539 |
SNPshot | rs879255539 |
SNPdbe | rs879255539 |
MSV3d | rs879255539 |
GWAS Ctlg | rs879255539 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255539(AGA;AGA) |
Alt | rs879255539(AGA;AGA) |
Reference | Rs879255539(CTGTG;CTGTG) |
Significance | Pathogenic |
Disease | Congenital bilateral absence of the vas deferens Vas deferens |
Variation | info |
Gene | ADGRG2 LOC101928415 |
CLNDBN | Congenital bilateral absence of the vas deferens Vas deferens, congenital bilateral aplasia of, X-linked |
Reversed | 1 |
HGVS | NC_000023.10:g.19021188_19021192delCACAGinsTCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239601.1, RCV000242233.1, |