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rs61748537

From SNPedia

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


Make rs61748537(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94098906
GeneABCA4
is asnp
is mentioned by
dbSNPrs61748537
dbSNP (classic)rs61748537
ClinGenrs61748537
ebirs61748537
HLIrs61748537
Exacrs61748537
Gnomadrs61748537
Varsomers61748537
LitVarrs61748537
Maprs61748537
PheGenIrs61748537
Biobankrs61748537
1000 genomesrs61748537
hgdprs61748537
ensemblrs61748537
geneviewrs61748537
scholarrs61748537
googlers61748537
pharmgkbrs61748537
gwascentralrs61748537
openSNPrs61748537
23andMers61748537
SNPshotrs61748537
SNPdbers61748537
MSV3drs61748537
GWAS Ctlgrs61748537
Max Magnitude3
ClinVar
Risk rs61748537(A;A) rs61748537(C;C)
Alt rs61748537(A;A) rs61748537(C;C)
Reference Rs61748537(G;G)
Significance Probable-Pathogenic
Disease not provided Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN not provided Stargardt disease 1
Reversed 1
HGVS NC_000001.10:g.94564462C>G
CLNSRC
CLNACC RCV000085831.2, RCV000408468.1,