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rs606231186

From SNPedia

Orientationplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs606231186(-;-)
Make rs606231186(-;AA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position19359639
GeneMAP3K15, PDHA1
is asnp
is mentioned by
dbSNPrs606231186
ebirs606231186
HLIrs606231186
Exacrs606231186
Varsomers606231186
Maprs606231186
PheGenIrs606231186
hapmaprs606231186
1000 genomesrs606231186
hgdprs606231186
ensemblrs606231186
gopubmedrs606231186
geneviewrs606231186
scholarrs606231186
googlers606231186
pharmgkbrs606231186
gwascentralrs606231186
openSNPrs606231186
23andMers606231186
23andMe allrs606231186
SNP Nexus

SNPshotrs606231186
SNPdbers606231186
MSV3drs606231186
GWAS Ctlgrs606231186
Max Magnitude0
ClinVar
Risk rs606231186(;)
Alt rs606231186(;)
Reference rs606231186(AA;AA)
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.19377757_19377758delAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000011622.4,