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rs121918195

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918195(C;T)
Make rs121918195(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position48132913
GeneMIR6505, PFKM
is asnp
is mentioned by
dbSNPrs121918195
ebirs121918195
HLIrs121918195
Exacrs121918195
Varsomers121918195
Maprs121918195
PheGenIrs121918195
hapmaprs121918195
1000 genomesrs121918195
hgdprs121918195
ensemblrs121918195
gopubmedrs121918195
geneviewrs121918195
scholarrs121918195
googlers121918195
pharmgkbrs121918195
gwascentralrs121918195
openSNPrs121918195
23andMers121918195
23andMe allrs121918195
SNP Nexus

SNPshotrs121918195
SNPdbers121918195
MSV3drs121918195
GWAS Ctlgrs121918195
Max Magnitude0
OMIM610681
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918195(T;T)
Alt rs121918195(T;T)
Reference rs121918195(C;C)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PFKM MIR6505
CLNDBN Glycogen storage disease, type VII
Reversed 0
HGVS NC_000012.11:g.48526696C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001217.3,