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rs606231184

From SNPedia

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Geno Mag Summary
(AGTC;AGTC) 0 common in clinvar
Make rs606231184(-;-)
Make rs606231184(-;CAGT)
Make rs606231184(CAGT;CAGT)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position19359647
GeneMAP3K15, PDHA1
is asnp
is mentioned by
dbSNPrs606231184
ebirs606231184
HLIrs606231184
Exacrs606231184
Varsomers606231184
Maprs606231184
PheGenIrs606231184
hapmaprs606231184
1000 genomesrs606231184
hgdprs606231184
ensemblrs606231184
gopubmedrs606231184
geneviewrs606231184
scholarrs606231184
googlers606231184
pharmgkbrs606231184
gwascentralrs606231184
openSNPrs606231184
23andMers606231184
23andMe allrs606231184
SNP Nexus

SNPshotrs606231184
SNPdbers606231184
MSV3drs606231184
GWAS Ctlgrs606231184
Max Magnitude0
ClinVar
Risk rs606231184(;)
Alt rs606231184(;)
Reference rs606231184(AGTC;AGTC)
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.19377765_19377768delCAGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000011618.3,