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rs61751399

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61751399(A;A)
Make rs61751399(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position94041367
GeneABCA4
is asnp
is mentioned by
dbSNPrs61751399
dbSNP (classic)rs61751399
ClinGenrs61751399
ebirs61751399
HLIrs61751399
Exacrs61751399
Gnomadrs61751399
Varsomers61751399
LitVarrs61751399
Maprs61751399
PheGenIrs61751399
Biobankrs61751399
1000 genomesrs61751399
hgdprs61751399
ensemblrs61751399
geneviewrs61751399
scholarrs61751399
googlers61751399
pharmgkbrs61751399
gwascentralrs61751399
openSNPrs61751399
23andMers61751399
SNPshotrs61751399
SNPdbers61751399
MSV3drs61751399
GWAS Ctlgrs61751399
Max Magnitude0
ClinVar
Risk rs61751399(A;A)
Alt rs61751399(A;A)
Reference Rs61751399(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.94506923C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023141.4, RCV000085574.1,