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rs62645952

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs62645952(C;T)
Make rs62645952(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position94098799
GeneABCA4
is asnp
is mentioned by
dbSNPrs62645952
ebirs62645952
HLIrs62645952
Exacrs62645952
Varsomers62645952
Maprs62645952
PheGenIrs62645952
hapmaprs62645952
1000 genomesrs62645952
hgdprs62645952
ensemblrs62645952
gopubmedrs62645952
geneviewrs62645952
scholarrs62645952
googlers62645952
pharmgkbrs62645952
gwascentralrs62645952
openSNPrs62645952
23andMers62645952
23andMe allrs62645952
SNP Nexus

SNPshotrs62645952
SNPdbers62645952
MSV3drs62645952
GWAS Ctlgrs62645952
Max Magnitude0
ClinVar
Risk rs62645952(G,T;G,T)
Alt rs62645952(G,T;G,T)
Reference rs62645952(C;C)
Significance Pathogenic
Disease Cone-rod dystrophy 3 not provided
Variation info
Gene ABCA4
CLNDBN Cone-rod dystrophy 3 not provided
Reversed 1
HGVS NC_000001.10:g.94564355G>A; NC_000001.10:g.94564355G>C
CLNSRC ClinVar Retina International
CLNACC RCV000132594.1, RCV000085865.1,