rs748979061
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs748979061(A;A) |
Make rs748979061(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 178986876 |
Gene | GRM6 |
is a | snp |
is | mentioned by |
dbSNP | rs748979061 |
dbSNP (classic) | rs748979061 |
ClinGen | rs748979061 |
ebi | rs748979061 |
HLI | rs748979061 |
Exac | rs748979061 |
Gnomad | rs748979061 |
Varsome | rs748979061 |
LitVar | rs748979061 |
Map | rs748979061 |
PheGenI | rs748979061 |
Biobank | rs748979061 |
1000 genomes | rs748979061 |
hgdp | rs748979061 |
ensembl | rs748979061 |
geneview | rs748979061 |
scholar | rs748979061 |
rs748979061 | |
pharmgkb | rs748979061 |
gwascentral | rs748979061 |
openSNP | rs748979061 |
23andMe | rs748979061 |
SNPshot | rs748979061 |
SNPdbe | rs748979061 |
MSV3d | rs748979061 |
GWAS Ctlg | rs748979061 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748979061(A;A) |
Alt | rs748979061(A;A) |
Reference | Rs748979061(G;G) |
Significance | Pathogenic |
Disease | Congenital stationary night blindness |
Variation | info |
Gene | GRM6 |
CLNDBN | Congenital stationary night blindness, type 1B |
Reversed | 0 |
HGVS | NC_000005.9:g.178413877G>A |
CLNSRC | |
CLNACC | RCV000179789.1, |