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rs387907237

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907237(C;T)
Make rs387907237(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position166365990
GeneBRP44L
is asnp
is mentioned by
dbSNPrs387907237
ebirs387907237
HLIrs387907237
Exacrs387907237
Varsomers387907237
Maprs387907237
PheGenIrs387907237
hapmaprs387907237
1000 genomesrs387907237
hgdprs387907237
ensemblrs387907237
gopubmedrs387907237
geneviewrs387907237
scholarrs387907237
googlers387907237
pharmgkbrs387907237
gwascentralrs387907237
openSNPrs387907237
23andMers387907237
23andMe allrs387907237
SNP Nexus

SNPshotrs387907237
SNPdbers387907237
MSV3drs387907237
GWAS Ctlgrs387907237
Max Magnitude0
ClinVar
Risk rs387907237(T;T)
Alt rs387907237(T;T)
Reference rs387907237(C;C)
Significance Pathogenic
Disease Mitochondrial pyruvate carrier deficiency
Variation info
Gene MPC1
CLNDBN Mitochondrial pyruvate carrier deficiency
Reversed 1
HGVS NC_000006.11:g.166779478G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029223.2,