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rs61752406

From SNPedia

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


Make rs61752406(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94055134
GeneABCA4
is asnp
is mentioned by
dbSNPrs61752406
dbSNP (classic)rs61752406
ClinGenrs61752406
ebirs61752406
HLIrs61752406
Exacrs61752406
Gnomadrs61752406
Varsomers61752406
LitVarrs61752406
Maprs61752406
PheGenIrs61752406
Biobankrs61752406
1000 genomesrs61752406
hgdprs61752406
ensemblrs61752406
geneviewrs61752406
scholarrs61752406
googlers61752406
pharmgkbrs61752406
gwascentralrs61752406
openSNPrs61752406
23andMers61752406
SNPshotrs61752406
SNPdbers61752406
MSV3drs61752406
GWAS Ctlgrs61752406
Max Magnitude3
ClinVar
Risk rs61752406(A;A)
Alt rs61752406(A;A)
Reference Rs61752406(G;G)
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.94520690C>T
CLNSRC
CLNACC RCV000085488.2, RCV000408572.2,