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rs137853250

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853250(A;A)
Make rs137853250(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position19359613
GeneMAP3K15, PDHA1
is asnp
is mentioned by
dbSNPrs137853250
ebirs137853250
HLIrs137853250
Exacrs137853250
Varsomers137853250
Maprs137853250
PheGenIrs137853250
hapmaprs137853250
1000 genomesrs137853250
hgdprs137853250
ensemblrs137853250
gopubmedrs137853250
geneviewrs137853250
scholarrs137853250
googlers137853250
pharmgkbrs137853250
gwascentralrs137853250
openSNPrs137853250
23andMers137853250
23andMe allrs137853250
SNP Nexus

SNPshotrs137853250
SNPdbers137853250
MSV3drs137853250
GWAS Ctlgrs137853250
Max Magnitude0
OMIM300502
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853250(A;A)
Alt rs137853250(A;A)
Reference rs137853250(G;G)
Significance Pathogenic
Disease Pyruvate dehydrogenase E1-alpha deficiency
Variation info
Gene PDHA1 MAP3K15
CLNDBN Pyruvate dehydrogenase E1-alpha deficiency
Reversed 0
HGVS NC_000023.10:g.19377731G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011620.10,