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rs121964925

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964925(C;T)
Make rs121964925(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position134661775
GeneBPGM
is asnp
is mentioned by
dbSNPrs121964925
ebirs121964925
HLIrs121964925
Exacrs121964925
Varsomers121964925
Maprs121964925
PheGenIrs121964925
hapmaprs121964925
1000 genomesrs121964925
hgdprs121964925
ensemblrs121964925
gopubmedrs121964925
geneviewrs121964925
scholarrs121964925
googlers121964925
pharmgkbrs121964925
gwascentralrs121964925
openSNPrs121964925
23andMers121964925
23andMe allrs121964925
SNP Nexus

SNPshotrs121964925
SNPdbers121964925
MSV3drs121964925
GWAS Ctlgrs121964925
Max Magnitude0
OMIM222800
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121964925(T;T)
Alt rs121964925(T;T)
Reference rs121964925(C;C)
Significance Pathogenic
Disease Deficiency of bisphosphoglycerate mutase
Variation info
Gene BPGM
CLNDBN Deficiency of bisphosphoglycerate mutase
Reversed 0
HGVS NC_000007.13:g.134346527C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012872.4,