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rs121918193

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918193(C;C)
Make rs121918193(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position48130393
GenePFKM
is asnp
is mentioned by
dbSNPrs121918193
ebirs121918193
HLIrs121918193
Exacrs121918193
Varsomers121918193
Maprs121918193
PheGenIrs121918193
hapmaprs121918193
1000 genomesrs121918193
hgdprs121918193
ensemblrs121918193
gopubmedrs121918193
geneviewrs121918193
scholarrs121918193
googlers121918193
pharmgkbrs121918193
gwascentralrs121918193
openSNPrs121918193
23andMers121918193
23andMe allrs121918193
SNP Nexus

SNPshotrs121918193
SNPdbers121918193
MSV3drs121918193
GWAS Ctlgrs121918193
Max Magnitude0
OMIM610681
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918193(A,C,T;A,C,T)
Alt rs121918193(A,C,T;A,C,T)
Reference rs121918193(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.48524176G>C; NC_000012.11:g.48524176G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001213.3, RCV000001216.3,