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rs122456135

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122456135(C;T)
Make rs122456135(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position49219344
GeneCACNA1F
is asnp
is mentioned by
dbSNPrs122456135
ebirs122456135
HLIrs122456135
Exacrs122456135
Varsomers122456135
Maprs122456135
PheGenIrs122456135
hapmaprs122456135
1000 genomesrs122456135
hgdprs122456135
ensemblrs122456135
gopubmedrs122456135
geneviewrs122456135
scholarrs122456135
googlers122456135
pharmgkbrs122456135
gwascentralrs122456135
openSNPrs122456135
23andMers122456135
23andMe allrs122456135
SNP Nexus

SNPshotrs122456135
SNPdbers122456135
MSV3drs122456135
GWAS Ctlgrs122456135
Max Magnitude0
OMIM300110
Desc
Variant0004
Relatedalso
ClinVar
Risk rs122456135(T;T)
Alt rs122456135(T;T)
Reference rs122456135(C;C)
Significance Pathogenic
Disease Congenital stationary night blindness
Variation info
Gene CACNA1F
CLNDBN Congenital stationary night blindness, type 2A
Reversed 1
HGVS NC_000023.10:g.49075803G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012383.17,