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rs587777441

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587777441(-;G)
Make rs587777441(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position6867598
GeneTPI1
is asnp
is mentioned by
dbSNPrs587777441
dbSNP (classic)rs587777441
ClinGenrs587777441
ebirs587777441
HLIrs587777441
Exacrs587777441
Gnomadrs587777441
Varsomers587777441
LitVarrs587777441
Maprs587777441
PheGenIrs587777441
Biobankrs587777441
1000 genomesrs587777441
hgdprs587777441
ensemblrs587777441
geneviewrs587777441
scholarrs587777441
googlers587777441
pharmgkbrs587777441
gwascentralrs587777441
openSNPrs587777441
23andMers587777441
SNPshotrs587777441
SNPdbers587777441
MSV3drs587777441
GWAS Ctlgrs587777441
Max Magnitude0
ClinVar
Risk rs587777441(G;G)
Alt rs587777441(G;G)
Reference Rs587777441(-;-)
Significance Pathogenic
Disease Triosephosphate isomerase deficiency
Variation info
Gene TPI1
CLNDBN Triosephosphate isomerase deficiency
Reversed 0
HGVS NC_000012.11:g.6976762dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000123390.2,