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rs122456134

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs122456134(C;T)
Make rs122456134(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position49218511
GeneCACNA1F
is asnp
is mentioned by
dbSNPrs122456134
ebirs122456134
HLIrs122456134
Exacrs122456134
Varsomers122456134
Maprs122456134
PheGenIrs122456134
hapmaprs122456134
1000 genomesrs122456134
hgdprs122456134
ensemblrs122456134
gopubmedrs122456134
geneviewrs122456134
scholarrs122456134
googlers122456134
pharmgkbrs122456134
gwascentralrs122456134
openSNPrs122456134
23andMers122456134
23andMe allrs122456134
SNP Nexus

SNPshotrs122456134
SNPdbers122456134
MSV3drs122456134
GWAS Ctlgrs122456134
Max Magnitude0
OMIM300110
Desc
Variant0002
Relatedalso
ClinVar
Risk rs122456134(T;T)
Alt rs122456134(T;T)
Reference rs122456134(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.49074970G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012381.24,