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rs759672616

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3 Carrier of a mutation for Stargardt disease
(T;T) 0 common in clinvar


Make rs759672616(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94021843
GeneABCA4
is asnp
is mentioned by
dbSNPrs759672616
dbSNP (classic)rs759672616
ClinGenrs759672616
ebirs759672616
HLIrs759672616
Exacrs759672616
Gnomadrs759672616
Varsomers759672616
LitVarrs759672616
Maprs759672616
PheGenIrs759672616
Biobankrs759672616
1000 genomesrs759672616
hgdprs759672616
ensemblrs759672616
geneviewrs759672616
scholarrs759672616
googlers759672616
pharmgkbrs759672616
gwascentralrs759672616
openSNPrs759672616
23andMers759672616
SNPshotrs759672616
SNPdbers759672616
MSV3drs759672616
GWAS Ctlgrs759672616
Max Magnitude3
ClinVar
Risk rs759672616(C;C)
Alt rs759672616(C;C)
Reference Rs759672616(T;T)
Significance Pathogenic
Disease Stargardt disease 1 not provided
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1 not provided
Reversed 0
HGVS NC_000001.10:g.94487399T>C
CLNSRC
CLNACC RCV000408554.1, RCV000425309.1,