rs727503062
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727503062(A;A) |
Make rs727503062(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 3585719 |
Gene | GIPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs727503062 |
dbSNP (classic) | rs727503062 |
ClinGen | rs727503062 |
ebi | rs727503062 |
HLI | rs727503062 |
Exac | rs727503062 |
Gnomad | rs727503062 |
Varsome | rs727503062 |
LitVar | rs727503062 |
Map | rs727503062 |
PheGenI | rs727503062 |
Biobank | rs727503062 |
1000 genomes | rs727503062 |
hgdp | rs727503062 |
ensembl | rs727503062 |
geneview | rs727503062 |
scholar | rs727503062 |
rs727503062 | |
pharmgkb | rs727503062 |
gwascentral | rs727503062 |
openSNP | rs727503062 |
23andMe | rs727503062 |
SNPshot | rs727503062 |
SNPdbe | rs727503062 |
MSV3d | rs727503062 |
GWAS Ctlg | rs727503062 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503062(A;A) |
Alt | rs727503062(A;A) |
Reference | Rs727503062(C;C) |
Significance | Probable-Pathogenic |
Disease | Nonsyndromic hearing loss and deafness not provided |
Variation | info |
Gene | GIPC3 |
CLNDBN | Nonsyndromic hearing loss and deafness not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.3585717C>A |
CLNSRC | |
CLNACC | RCV000150720.1, RCV000413083.1, |