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rs121918194

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918194(A;C)
Make rs121918194(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position48142041
GenePFKM
is asnp
is mentioned by
dbSNPrs121918194
ebirs121918194
HLIrs121918194
Exacrs121918194
Varsomers121918194
Maprs121918194
PheGenIrs121918194
hapmaprs121918194
1000 genomesrs121918194
hgdprs121918194
ensemblrs121918194
gopubmedrs121918194
geneviewrs121918194
scholarrs121918194
googlers121918194
pharmgkbrs121918194
gwascentralrs121918194
openSNPrs121918194
23andMers121918194
23andMe allrs121918194
SNP Nexus

SNPshotrs121918194
SNPdbers121918194
MSV3drs121918194
GWAS Ctlgrs121918194
Max Magnitude0
OMIM610681
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918194(C;C)
Alt rs121918194(C;C)
Reference rs121918194(A;A)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PFKM
CLNDBN Glycogen storage disease, type VII
Reversed 0
HGVS NC_000012.11:g.48535824A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001214.3,