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rs119103240

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119103240(A;A)
Make rs119103240(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position112061088
GeneDLAT
is asnp
is mentioned by
dbSNPrs119103240
ebirs119103240
HLIrs119103240
Exacrs119103240
Varsomers119103240
Maprs119103240
PheGenIrs119103240
hapmaprs119103240
1000 genomesrs119103240
hgdprs119103240
ensemblrs119103240
gopubmedrs119103240
geneviewrs119103240
scholarrs119103240
googlers119103240
pharmgkbrs119103240
gwascentralrs119103240
openSNPrs119103240
23andMers119103240
23andMe allrs119103240
SNP Nexus

SNPshotrs119103240
SNPdbers119103240
MSV3drs119103240
GWAS Ctlgrs119103240
Max Magnitude0
OMIM608770
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119103240(A;A)
Alt rs119103240(A;A)
Reference rs119103240(C;C)
Significance Pathogenic
Disease Pyruvate dehydrogenase E2 deficiency
Variation info
Gene DLAT
CLNDBN Pyruvate dehydrogenase E2 deficiency
Reversed 0
HGVS NC_000011.9:g.111931812C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002191.3,