rs62638214
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs62638214(C;T) |
Make rs62638214(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 178986393 |
Gene | GRM6 |
is a | snp |
is | mentioned by |
dbSNP | rs62638214 |
dbSNP (classic) | rs62638214 |
ClinGen | rs62638214 |
ebi | rs62638214 |
HLI | rs62638214 |
Exac | rs62638214 |
Gnomad | rs62638214 |
Varsome | rs62638214 |
LitVar | rs62638214 |
Map | rs62638214 |
PheGenI | rs62638214 |
Biobank | rs62638214 |
1000 genomes | rs62638214 |
hgdp | rs62638214 |
ensembl | rs62638214 |
geneview | rs62638214 |
scholar | rs62638214 |
rs62638214 | |
pharmgkb | rs62638214 |
gwascentral | rs62638214 |
openSNP | rs62638214 |
23andMe | rs62638214 |
SNPshot | rs62638214 |
SNPdbe | rs62638214 |
MSV3d | rs62638214 |
GWAS Ctlg | rs62638214 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62638214(T;T) |
Alt | rs62638214(T;T) |
Reference | Rs62638214(C;C) |
Significance | Pathogenic |
Disease | Congenital stationary night blindness not provided |
Variation | info |
Gene | GRM6 |
CLNDBN | Congenital stationary night blindness, type 1B not provided |
Reversed | 1 |
HGVS | NC_000005.9:g.178413394G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006197.4, RCV000086036.1, |