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rs61750155

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 3 Carrier of a mutation for Stargardt disease
(C;C) 0 common in clinvar


Make rs61750155(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94021695
GeneABCA4
is asnp
is mentioned by
dbSNPrs61750155
dbSNP (classic)rs61750155
ClinGenrs61750155
ebirs61750155
HLIrs61750155
Exacrs61750155
Gnomadrs61750155
Varsomers61750155
LitVarrs61750155
Maprs61750155
PheGenIrs61750155
Biobankrs61750155
1000 genomesrs61750155
hgdprs61750155
ensemblrs61750155
geneviewrs61750155
scholarrs61750155
googlers61750155
pharmgkbrs61750155
gwascentralrs61750155
openSNPrs61750155
23andMers61750155
SNPshotrs61750155
SNPdbers61750155
MSV3drs61750155
GWAS Ctlgrs61750155
Max Magnitude3
ClinVar
Risk rs61750155(A;A)
Alt rs61750155(A;A)
Reference Rs61750155(C;C)
Significance Pathogenic
Disease not provided Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN not provided Stargardt disease 1
Reversed 1
HGVS NC_000001.10:g.94487251G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000085674.3, RCV000408465.1,