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rs121909534

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909534(A;A)
Make rs121909534(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position30069384
GeneALDOA
is asnp
is mentioned by
dbSNPrs121909534
ebirs121909534
HLIrs121909534
Exacrs121909534
Varsomers121909534
Maprs121909534
PheGenIrs121909534
hapmaprs121909534
1000 genomesrs121909534
hgdprs121909534
ensemblrs121909534
gopubmedrs121909534
geneviewrs121909534
scholarrs121909534
googlers121909534
pharmgkbrs121909534
gwascentralrs121909534
openSNPrs121909534
23andMers121909534
23andMe allrs121909534
SNP Nexus

SNPshotrs121909534
SNPdbers121909534
MSV3drs121909534
GWAS Ctlgrs121909534
Max Magnitude0
OMIM103850
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909534(A;A)
Alt rs121909534(A;A)
Reference rs121909534(G;G)
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.30080705G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019809.27,