rs786205113
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786205113(A;A) |
Make rs786205113(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 31032930 |
Gene | LOC105370752, TRPM1 |
is a | snp |
is | mentioned by |
dbSNP | rs786205113 |
dbSNP (classic) | rs786205113 |
ClinGen | rs786205113 |
ebi | rs786205113 |
HLI | rs786205113 |
Exac | rs786205113 |
Gnomad | rs786205113 |
Varsome | rs786205113 |
LitVar | rs786205113 |
Map | rs786205113 |
PheGenI | rs786205113 |
Biobank | rs786205113 |
1000 genomes | rs786205113 |
hgdp | rs786205113 |
ensembl | rs786205113 |
geneview | rs786205113 |
scholar | rs786205113 |
rs786205113 | |
pharmgkb | rs786205113 |
gwascentral | rs786205113 |
openSNP | rs786205113 |
23andMe | rs786205113 |
SNPshot | rs786205113 |
SNPdbe | rs786205113 |
MSV3d | rs786205113 |
GWAS Ctlg | rs786205113 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205113(A;A) |
Alt | rs786205113(A;A) |
Reference | Rs786205113(C;C) |
Significance | Pathogenic |
Disease | Congenital stationary night blindness |
Variation | info |
Gene | TRPM1 |
CLNDBN | Congenital stationary night blindness, type 1C |
Reversed | 1 |
HGVS | NC_000015.9:g.31325133G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023311.4, |