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rs387906513

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906513(G;T)
Make rs387906513(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position6869181
GeneTPI1
is asnp
is mentioned by
dbSNPrs387906513
ebirs387906513
HLIrs387906513
Exacrs387906513
Varsomers387906513
Maprs387906513
PheGenIrs387906513
hapmaprs387906513
1000 genomesrs387906513
hgdprs387906513
ensemblrs387906513
gopubmedrs387906513
geneviewrs387906513
scholarrs387906513
googlers387906513
pharmgkbrs387906513
gwascentralrs387906513
openSNPrs387906513
23andMers387906513
23andMe allrs387906513
SNP Nexus

SNPshotrs387906513
SNPdbers387906513
MSV3drs387906513
GWAS Ctlgrs387906513
Max Magnitude0
ClinVar
Risk rs387906513(T;T)
Alt rs387906513(T;T)
Reference rs387906513(G;G)
Significance Pathogenic
Disease Triosephosphate isomerase deficiency
Variation info
Gene
CLNDBN Triosephosphate isomerase deficiency
Reversed 0
HGVS NC_000012.11:g.6978345G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013291.1,