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rs863223294

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCGTC;GCGTC) 0 common in clinvar
Make rs863223294(GCGTC;TGG)
Make rs863223294(TGG;TGG)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position49215241
GeneCACNA1F
is asnp
is mentioned by
dbSNPrs863223294
dbSNP (old)rs863223294
ClinGenrs863223294
ebirs863223294
HLIrs863223294
Exacrs863223294
Varsomers863223294
Maprs863223294
PheGenIrs863223294
Biobankrs863223294
1000 genomesrs863223294
hgdprs863223294
ensemblrs863223294
gopubmedrs863223294
geneviewrs863223294
scholarrs863223294
googlers863223294
pharmgkbrs863223294
gwascentralrs863223294
openSNPrs863223294
23andMers863223294
23andMe allrs863223294
SNP Nexus

SNPshotrs863223294
SNPdbers863223294
MSV3drs863223294
GWAS Ctlgrs863223294
Max Magnitude0
ClinVar
Risk rs863223294(TGG;TGG)
Alt rs863223294(TGG;TGG)
Reference Rs863223294(GCGTC;GCGTC)
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.49071701_49071705delGACGCinsCCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000012386.24,