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rs122456133

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs122456133(A;A)
Make rs122456133(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position49228048
GeneCACNA1F
is asnp
is mentioned by
dbSNPrs122456133
ebirs122456133
HLIrs122456133
Exacrs122456133
Varsomers122456133
Maprs122456133
PheGenIrs122456133
hapmaprs122456133
1000 genomesrs122456133
hgdprs122456133
ensemblrs122456133
gopubmedrs122456133
geneviewrs122456133
scholarrs122456133
googlers122456133
pharmgkbrs122456133
gwascentralrs122456133
openSNPrs122456133
23andMers122456133
23andMe allrs122456133
SNP Nexus

SNPshotrs122456133
SNPdbers122456133
MSV3drs122456133
GWAS Ctlgrs122456133
Max Magnitude0
OMIM300110
Desc
Variant0001
Relatedalso
ClinVar
Risk rs122456133(A;A)
Alt rs122456133(A;A)
Reference rs122456133(G;G)
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.49084510C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012380.22,