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rs61750130

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61750130(C;T)
Make rs61750130(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position94031110
GeneABCA4
is asnp
is mentioned by
dbSNPrs61750130
ebirs61750130
HLIrs61750130
Exacrs61750130
Varsomers61750130
Maprs61750130
PheGenIrs61750130
hapmaprs61750130
1000 genomesrs61750130
hgdprs61750130
ensemblrs61750130
gopubmedrs61750130
geneviewrs61750130
scholarrs61750130
googlers61750130
pharmgkbrs61750130
gwascentralrs61750130
openSNPrs61750130
23andMers61750130
23andMe allrs61750130
SNP Nexus

SNPshotrs61750130
SNPdbers61750130
MSV3drs61750130
GWAS Ctlgrs61750130
Max Magnitude0
OMIM601691
Desc
Variant0026
Relatedalso


ClinVar
Risk rs61750130(T;T)
Alt rs61750130(T;T)
Reference rs61750130(C;C)
Significance Other
Disease Stargardt disease 1 MACULAR DEGENERATION not provided
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1 MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO not provided
Reversed 1
HGVS NC_000001.10:g.94496666G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008362.4, RCV000023139.2, RCV000078666.3,