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rs121909206

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909206(A;A)
Make rs121909206(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position94015766
GeneABCA4
is asnp
is mentioned by
dbSNPrs121909206
ebirs121909206
HLIrs121909206
Exacrs121909206
Varsomers121909206
Maprs121909206
PheGenIrs121909206
hapmaprs121909206
1000 genomesrs121909206
hgdprs121909206
ensemblrs121909206
gopubmedrs121909206
geneviewrs121909206
scholarrs121909206
googlers121909206
pharmgkbrs121909206
gwascentralrs121909206
openSNPrs121909206
23andMers121909206
23andMe allrs121909206
SNP Nexus

SNPshotrs121909206
SNPdbers121909206
MSV3drs121909206
GWAS Ctlgrs121909206
Max Magnitude0
OMIM601691
Desc
Variant0031
Relatedalso
ClinVar
Risk rs121909206(A;A)
Alt rs121909206(A;A)
Reference rs121909206(C;C)
Significance Pathogenic
Disease Cone-rod dystrophy 3 Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN Cone-rod dystrophy 3 Stargardt disease 1
Reversed 1
HGVS NC_000001.10:g.94481322G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008367.2, RCV000008368.3,