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rs587777440

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777440(C;C)
Make rs587777440(C;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position6870355
GeneTPI1
is asnp
is mentioned by
dbSNPrs587777440
ebirs587777440
HLIrs587777440
Exacrs587777440
Varsomers587777440
Maprs587777440
PheGenIrs587777440
hapmaprs587777440
1000 genomesrs587777440
hgdprs587777440
ensemblrs587777440
gopubmedrs587777440
geneviewrs587777440
scholarrs587777440
googlers587777440
pharmgkbrs587777440
gwascentralrs587777440
openSNPrs587777440
23andMers587777440
23andMe allrs587777440
SNP Nexus

SNPshotrs587777440
SNPdbers587777440
MSV3drs587777440
GWAS Ctlgrs587777440
Max Magnitude0
ClinVar
Risk rs587777440(C;C)
Alt rs587777440(C;C)
Reference rs587777440(T;T)
Significance Pathogenic
Disease Triosephosphate isomerase deficiency
Variation info
Gene TPI1
CLNDBN Triosephosphate isomerase deficiency
Reversed 0
HGVS NC_000012.11:g.6979519T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000123389.2,