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rs61750152

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61750152(C;T)
Make rs61750152(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position94025011
GeneABCA4
is asnp
is mentioned by
dbSNPrs61750152
dbSNP (classic)rs61750152
ClinGenrs61750152
ebirs61750152
HLIrs61750152
Exacrs61750152
Gnomadrs61750152
Varsomers61750152
LitVarrs61750152
Maprs61750152
PheGenIrs61750152
Biobankrs61750152
1000 genomesrs61750152
hgdprs61750152
ensemblrs61750152
geneviewrs61750152
scholarrs61750152
googlers61750152
pharmgkbrs61750152
gwascentralrs61750152
openSNPrs61750152
23andMers61750152
SNPshotrs61750152
SNPdbers61750152
MSV3drs61750152
GWAS Ctlgrs61750152
Max Magnitude0
ClinVar
Risk rs61750152(T;T)
Alt rs61750152(T;T)
Reference Rs61750152(C;C)
Significance Pathogenic
Disease not provided Stargardt disease 1 Retinitis pigmentosa 19
Variation info
Gene ABCA4
CLNDBN not provided Stargardt disease 1 Retinitis pigmentosa 19
Reversed 1
HGVS NC_000001.10:g.94490567G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000085656.2, RCV000177509.1, RCV000210286.1,