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rs606231189

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231189(-;-)
Make rs606231189(-;ATCA)
Make rs606231189(ATCA;ATCA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position19359625
GeneMAP3K15, PDHA1
is asnp
is mentioned by
dbSNPrs606231189
ebirs606231189
HLIrs606231189
Exacrs606231189
Varsomers606231189
Maprs606231189
PheGenIrs606231189
hapmaprs606231189
1000 genomesrs606231189
hgdprs606231189
ensemblrs606231189
gopubmedrs606231189
geneviewrs606231189
scholarrs606231189
googlers606231189
pharmgkbrs606231189
gwascentralrs606231189
openSNPrs606231189
23andMers606231189
23andMe allrs606231189
SNP Nexus

SNPshotrs606231189
SNPdbers606231189
MSV3drs606231189
GWAS Ctlgrs606231189
Max Magnitude0
ClinVar
Risk rs606231189(CAAT;CAAT)
Alt rs606231189(CAAT;CAAT)
Reference rs606231189(;)
Significance Pathogenic
Disease Pyruvate dehydrogenase E1-alpha deficiency not provided
Variation info
Gene PDHA1 MAP3K15
CLNDBN Pyruvate dehydrogenase E1-alpha deficiency not provided
Reversed 0
HGVS NC_000023.10:g.19377740_19377743dupATCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000011627.8, RCV000199126.1,