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rs62642560

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs62642560(-;-)
Make rs62642560(-;CT)
ReferenceGRCh38 38.1/141
Chromosome1
Position94051669
GeneABCA4
is asnp
is mentioned by
dbSNPrs62642560
dbSNP (classic)rs62642560
ClinGenrs62642560
ebirs62642560
HLIrs62642560
Exacrs62642560
Gnomadrs62642560
Varsomers62642560
LitVarrs62642560
Maprs62642560
PheGenIrs62642560
Biobankrs62642560
1000 genomesrs62642560
hgdprs62642560
ensemblrs62642560
geneviewrs62642560
scholarrs62642560
googlers62642560
pharmgkbrs62642560
gwascentralrs62642560
openSNPrs62642560
23andMers62642560
SNPshotrs62642560
SNPdbers62642560
MSV3drs62642560
GWAS Ctlgrs62642560
Max Magnitude0
ClinVar
Risk rs62642560(-;-)
Alt rs62642560(-;-)
Reference Rs62642560(CT;CT)
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.94517225_94517226delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000008360.3, RCV000085495.1,