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rs121918196

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918196(G;T)
Make rs121918196(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position48145096
GenePFKM
is asnp
is mentioned by
dbSNPrs121918196
ebirs121918196
HLIrs121918196
Exacrs121918196
Varsomers121918196
Maprs121918196
PheGenIrs121918196
hapmaprs121918196
1000 genomesrs121918196
hgdprs121918196
ensemblrs121918196
gopubmedrs121918196
geneviewrs121918196
scholarrs121918196
googlers121918196
pharmgkbrs121918196
gwascentralrs121918196
openSNPrs121918196
23andMers121918196
23andMe allrs121918196
SNP Nexus

SNPshotrs121918196
SNPdbers121918196
MSV3drs121918196
GWAS Ctlgrs121918196
Max Magnitude0
OMIM610681
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918196(T;T)
Alt rs121918196(T;T)
Reference rs121918196(G;G)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PFKM
CLNDBN Glycogen storage disease, type VII
Reversed 0
HGVS NC_000012.11:g.48538879G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001218.3,