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rs387907238

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907238(A;A)
Make rs387907238(A;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position166366043
GeneBRP44L
is asnp
is mentioned by
dbSNPrs387907238
ebirs387907238
HLIrs387907238
Exacrs387907238
Varsomers387907238
Maprs387907238
PheGenIrs387907238
hapmaprs387907238
1000 genomesrs387907238
hgdprs387907238
ensemblrs387907238
gopubmedrs387907238
geneviewrs387907238
scholarrs387907238
googlers387907238
pharmgkbrs387907238
gwascentralrs387907238
openSNPrs387907238
23andMers387907238
23andMe allrs387907238
SNP Nexus

SNPshotrs387907238
SNPdbers387907238
MSV3drs387907238
GWAS Ctlgrs387907238
Max Magnitude0
ClinVar
Risk rs387907238(A,G;A,G)
Alt rs387907238(A,G;A,G)
Reference rs387907238(T;T)
Significance Pathogenic
Disease Mitochondrial pyruvate carrier deficiency
Variation info
Gene MPC1
CLNDBN Mitochondrial pyruvate carrier deficiency
Reversed 1
HGVS NC_000006.11:g.166779531A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000029224.2,