Have questions? Visit https://www.reddit.com/r/SNPedia

rs122456136

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs122456136(C;C)
Make rs122456136(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position49222576
GeneCACNA1F
is asnp
is mentioned by
dbSNPrs122456136
ebirs122456136
HLIrs122456136
Exacrs122456136
Varsomers122456136
Maprs122456136
PheGenIrs122456136
hapmaprs122456136
1000 genomesrs122456136
hgdprs122456136
ensemblrs122456136
gopubmedrs122456136
geneviewrs122456136
scholarrs122456136
googlers122456136
pharmgkbrs122456136
gwascentralrs122456136
openSNPrs122456136
23andMers122456136
23andMe allrs122456136
SNP Nexus

SNPshotrs122456136
SNPdbers122456136
MSV3drs122456136
GWAS Ctlgrs122456136
Max Magnitude0
OMIM300110
Desc
Variant0006
Relatedalso
ClinVar
Risk rs122456136(C;C)
Alt rs122456136(C;C)
Reference rs122456136(T;T)
Significance Pathogenic
Disease Congenital stationary night blindness
Variation info
Gene CACNA1F
CLNDBN Congenital stationary night blindness, type 2A, severe
Reversed 1
HGVS NC_000023.10:g.49079035A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012385.24,