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rs61750061

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61750061(A;A)
Make rs61750061(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position94043420
GeneABCA4
is asnp
is mentioned by
dbSNPrs61750061
dbSNP (classic)rs61750061
ClinGenrs61750061
ebirs61750061
HLIrs61750061
Exacrs61750061
Gnomadrs61750061
Varsomers61750061
LitVarrs61750061
Maprs61750061
PheGenIrs61750061
Biobankrs61750061
1000 genomesrs61750061
hgdprs61750061
ensemblrs61750061
geneviewrs61750061
scholarrs61750061
googlers61750061
pharmgkbrs61750061
gwascentralrs61750061
openSNPrs61750061
23andMers61750061
SNPshotrs61750061
SNPdbers61750061
MSV3drs61750061
GWAS Ctlgrs61750061
Max Magnitude0
OMIM601691
Desc
Variant0012
Relatedalso


ClinVar
Risk rs61750061(A;A)
Alt rs61750061(A;A)
Reference Rs61750061(G;G)
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.94508976C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008337.4, RCV000085548.1,