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rs121909533

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909533(A;G)
Make rs121909533(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position30068824
GeneALDOA
is asnp
is mentioned by
dbSNPrs121909533
ebirs121909533
HLIrs121909533
Exacrs121909533
Varsomers121909533
Maprs121909533
PheGenIrs121909533
hapmaprs121909533
1000 genomesrs121909533
hgdprs121909533
ensemblrs121909533
gopubmedrs121909533
geneviewrs121909533
scholarrs121909533
googlers121909533
pharmgkbrs121909533
gwascentralrs121909533
openSNPrs121909533
23andMers121909533
23andMe allrs121909533
SNP Nexus

SNPshotrs121909533
SNPdbers121909533
MSV3drs121909533
GWAS Ctlgrs121909533
Max Magnitude0
OMIM103850
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909533(G;G)
Alt rs121909533(G;G)
Reference rs121909533(A;A)
Significance Pathogenic
Disease HNSHA due to aldolase A deficiency
Variation info
Gene ALDOA
CLNDBN HNSHA due to aldolase A deficiency
Reversed 0
HGVS NC_000016.9:g.30080145A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019808.28,