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rs58331765

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs58331765(C;T)
Make rs58331765(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position94047046
GeneABCA4
is asnp
is mentioned by
dbSNPrs58331765
ebirs58331765
HLIrs58331765
Exacrs58331765
Varsomers58331765
Maprs58331765
PheGenIrs58331765
hapmaprs58331765
1000 genomesrs58331765
hgdprs58331765
ensemblrs58331765
gopubmedrs58331765
geneviewrs58331765
scholarrs58331765
googlers58331765
pharmgkbrs58331765
gwascentralrs58331765
openSNPrs58331765
23andMers58331765
23andMe allrs58331765
SNP Nexus

SNPshotrs58331765
SNPdbers58331765
MSV3drs58331765
GWAS Ctlgrs58331765
GMAF0.005051
Max Magnitude0
OMIM601691
Desc
Variant0002
Relatedalso


ClinVar
Risk rs58331765(T;T)
Alt rs58331765(T;T)
Reference rs58331765(C;C)
Significance Pathogenic
Disease Stargardt disease 1 not provided
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1 not provided
Reversed 0
HGVS NC_000001.10:g.94512602C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008330.2, RCV000085506.1,