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rs201471607

From SNPedia

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


Make rs201471607(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94046943
GeneABCA4
is asnp
is mentioned by
dbSNPrs201471607
dbSNP (classic)rs201471607
ClinGenrs201471607
ebirs201471607
HLIrs201471607
Exacrs201471607
Gnomadrs201471607
Varsomers201471607
LitVarrs201471607
Maprs201471607
PheGenIrs201471607
Biobankrs201471607
1000 genomesrs201471607
hgdprs201471607
ensemblrs201471607
geneviewrs201471607
scholarrs201471607
googlers201471607
pharmgkbrs201471607
gwascentralrs201471607
openSNPrs201471607
23andMers201471607
23andMe allrs201471607
SNPshotrs201471607
SNPdbers201471607
MSV3drs201471607
GWAS Ctlgrs201471607
Max Magnitude3
ClinVar
Risk rs201471607(C;C)
Alt rs201471607(C;C)
Reference Rs201471607(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.94512499T>C
CLNSRC
CLNACC RCV000408500.1, RCV000413621.1,