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rs786205092

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205092(-;-)
Make rs786205092(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position134661568
GeneBPGM, LOC102724947
is asnp
is mentioned by
dbSNPrs786205092
ebirs786205092
HLIrs786205092
Exacrs786205092
Varsomers786205092
Maprs786205092
PheGenIrs786205092
hapmaprs786205092
1000 genomesrs786205092
hgdprs786205092
ensemblrs786205092
gopubmedrs786205092
geneviewrs786205092
scholarrs786205092
googlers786205092
pharmgkbrs786205092
gwascentralrs786205092
openSNPrs786205092
23andMers786205092
23andMe allrs786205092
SNP Nexus

SNPshotrs786205092
SNPdbers786205092
MSV3drs786205092
GWAS Ctlgrs786205092
Max Magnitude0
ClinVar
Risk rs786205092(;)
Alt rs786205092(;)
Reference rs786205092(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.134346320delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000012873.5,