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rs61751408

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61751408(C;T)
Make rs61751408(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position94005509
GeneABCA4
is asnp
is mentioned by
dbSNPrs61751408
ebirs61751408
HLIrs61751408
Exacrs61751408
Varsomers61751408
Maprs61751408
PheGenIrs61751408
hapmaprs61751408
1000 genomesrs61751408
hgdprs61751408
ensemblrs61751408
gopubmedrs61751408
geneviewrs61751408
scholarrs61751408
googlers61751408
pharmgkbrs61751408
gwascentralrs61751408
openSNPrs61751408
23andMers61751408
23andMe allrs61751408
SNP Nexus

SNPshotrs61751408
SNPdbers61751408
MSV3drs61751408
GWAS Ctlgrs61751408
GMAF0.0004591
Max Magnitude0
OMIM601691
Desc
Variant0004
Relatedalso


ClinVar
Risk rs61751408(T;T)
Alt rs61751408(T;T)
Reference rs61751408(C;C)
Significance Pathogenic
Disease Stargardt disease 1 Cone-rod dystrophy 3 not provided
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1 Cone-rod dystrophy 3 not provided
Reversed 1
HGVS NC_000001.10:g.94471065G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008332.3, RCV000008333.4, RCV000085785.1,