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rs786205113

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205113(A;A)
Make rs786205113(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position31032930
GeneLOC105370752, TRPM1
is asnp
is mentioned by
dbSNPrs786205113
dbSNP (classic)rs786205113
ClinGenrs786205113
ebirs786205113
HLIrs786205113
Exacrs786205113
Gnomadrs786205113
Varsomers786205113
LitVarrs786205113
Maprs786205113
PheGenIrs786205113
Biobankrs786205113
1000 genomesrs786205113
hgdprs786205113
ensemblrs786205113
geneviewrs786205113
scholarrs786205113
googlers786205113
pharmgkbrs786205113
gwascentralrs786205113
openSNPrs786205113
23andMers786205113
SNPshotrs786205113
SNPdbers786205113
MSV3drs786205113
GWAS Ctlgrs786205113
Max Magnitude0
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,