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rs797044676

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044676(C;T)
Make rs797044676(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position49231709
GeneCACNA1F
is asnp
is mentioned by
dbSNPrs797044676
ebirs797044676
HLIrs797044676
Exacrs797044676
Varsomers797044676
Maprs797044676
PheGenIrs797044676
hapmaprs797044676
1000 genomesrs797044676
hgdprs797044676
ensemblrs797044676
gopubmedrs797044676
geneviewrs797044676
scholarrs797044676
googlers797044676
pharmgkbrs797044676
gwascentralrs797044676
openSNPrs797044676
23andMers797044676
23andMe allrs797044676
SNP Nexus

SNPshotrs797044676
SNPdbers797044676
MSV3drs797044676
GWAS Ctlgrs797044676
Max Magnitude0
ClinVar
Risk rs797044676(T;T)
Alt rs797044676(T;T)
Reference rs797044676(C;C)
Significance Pathogenic
Disease Congenital stationary night blindness Cone-rod dystrophy X-linked 3
Variation info
Gene CACNA1F
CLNDBN Congenital stationary night blindness, type 2A Cone-rod dystrophy X-linked 3
Reversed 1
HGVS NC_000023.10:g.49088171G>A
CLNSRC
CLNACC RCV000175796.1, RCV000175797.1,