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rs61750200

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61750200(C;T)
Make rs61750200(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position94098928
GeneABCA4
is asnp
is mentioned by
dbSNPrs61750200
ebirs61750200
HLIrs61750200
Exacrs61750200
Varsomers61750200
Maprs61750200
PheGenIrs61750200
hapmaprs61750200
1000 genomesrs61750200
hgdprs61750200
ensemblrs61750200
gopubmedrs61750200
geneviewrs61750200
scholarrs61750200
googlers61750200
pharmgkbrs61750200
gwascentralrs61750200
openSNPrs61750200
23andMers61750200
23andMe allrs61750200
SNP Nexus

SNPshotrs61750200
SNPdbers61750200
MSV3drs61750200
GWAS Ctlgrs61750200
Max Magnitude0
OMIM601691
Desc
Variant0020
Relatedalso


ClinVar
Risk rs61750200(T;T)
Alt rs61750200(T;T)
Reference rs61750200(C;C)
Significance Pathogenic
Disease Stargardt disease 1 not provided Cone-rod dystrophy 3
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1 not provided Cone-rod dystrophy 3
Reversed 1
HGVS NC_000001.10:g.94564484G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008355.4, RCV000085812.1, RCV000179293.1,