rs387907002
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387907002(C;T) |
Make rs387907002(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 3586967 |
Gene | GIPC3 |
is a | snp |
is | mentioned by |
dbSNP | rs387907002 |
dbSNP (classic) | rs387907002 |
ClinGen | rs387907002 |
ebi | rs387907002 |
HLI | rs387907002 |
Exac | rs387907002 |
Gnomad | rs387907002 |
Varsome | rs387907002 |
LitVar | rs387907002 |
Map | rs387907002 |
PheGenI | rs387907002 |
Biobank | rs387907002 |
1000 genomes | rs387907002 |
hgdp | rs387907002 |
ensembl | rs387907002 |
geneview | rs387907002 |
scholar | rs387907002 |
rs387907002 | |
pharmgkb | rs387907002 |
gwascentral | rs387907002 |
openSNP | rs387907002 |
23andMe | rs387907002 |
SNPshot | rs387907002 |
SNPdbe | rs387907002 |
MSV3d | rs387907002 |
GWAS Ctlg | rs387907002 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907002(T;T) |
Alt | rs387907002(T;T) |
Reference | Rs387907002(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | GIPC3 |
CLNDBN | Deafness, autosomal recessive 15 |
Reversed | 0 |
HGVS | NC_000019.9:g.3586965C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023737.2, |