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rs61748548

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs61748548(G;G)
Make rs61748548(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position94080559
GeneABCA4
is asnp
is mentioned by
dbSNPrs61748548
ebirs61748548
HLIrs61748548
Exacrs61748548
Varsomers61748548
Maprs61748548
PheGenIrs61748548
hapmaprs61748548
1000 genomesrs61748548
hgdprs61748548
ensemblrs61748548
gopubmedrs61748548
geneviewrs61748548
scholarrs61748548
googlers61748548
pharmgkbrs61748548
gwascentralrs61748548
openSNPrs61748548
23andMers61748548
23andMe allrs61748548
SNP Nexus

SNPshotrs61748548
SNPdbers61748548
MSV3drs61748548
GWAS Ctlgrs61748548
Max Magnitude0
OMIM601691
Desc
Variant0018
Relatedalso


ClinVar
Risk rs61748548(G;G)
Alt rs61748548(G;G)
Reference rs61748548(T;T)
Significance Pathogenic
Disease Stargardt disease 1 not provided
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1 not provided
Reversed 1
HGVS NC_000001.10:g.94546115A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008353.2, RCV000085368.1,