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rs863225090

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225090(A;A)
Make rs863225090(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position49219668
GeneCACNA1F
is asnp
is mentioned by
dbSNPrs863225090
dbSNP (classic)rs863225090
ClinGenrs863225090
ebirs863225090
HLIrs863225090
Exacrs863225090
Gnomadrs863225090
Varsomers863225090
LitVarrs863225090
Maprs863225090
PheGenIrs863225090
Biobankrs863225090
1000 genomesrs863225090
hgdprs863225090
ensemblrs863225090
geneviewrs863225090
scholarrs863225090
googlers863225090
pharmgkbrs863225090
gwascentralrs863225090
openSNPrs863225090
23andMers863225090
SNPshotrs863225090
SNPdbers863225090
MSV3drs863225090
GWAS Ctlgrs863225090
Max Magnitude0
ClinVar
Risk rs863225090(A;A)
Alt rs863225090(A;A)
Reference Rs863225090(G;G)
Significance Pathogenic
Disease Cone-rod dystrophy X-linked 3
Variation info
Gene CACNA1F
CLNDBN Cone-rod dystrophy X-linked 3
Reversed 1
HGVS NC_000023.10:g.49076127C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000201353.1,