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rs202143236

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs202143236(A;A)
Make rs202143236(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position48131394
GeneMIR6505, PFKM
is asnp
is mentioned by
dbSNPrs202143236
ebirs202143236
HLIrs202143236
Exacrs202143236
Varsomers202143236
Maprs202143236
PheGenIrs202143236
hapmaprs202143236
1000 genomesrs202143236
hgdprs202143236
ensemblrs202143236
gopubmedrs202143236
geneviewrs202143236
scholarrs202143236
googlers202143236
pharmgkbrs202143236
gwascentralrs202143236
openSNPrs202143236
23andMers202143236
23andMe allrs202143236
SNP Nexus

SNPshotrs202143236
SNPdbers202143236
MSV3drs202143236
GWAS Ctlgrs202143236
Max Magnitude0
ClinVar
Risk rs202143236(A;A)
Alt rs202143236(A;A)
Reference rs202143236(G;G)
Significance Pathogenic
Disease Glycogen storage disease
Variation info
Gene PFKM MIR6505
CLNDBN Glycogen storage disease, type VII
Reversed 0
HGVS NC_000012.11:g.48525177G>A
CLNSRC
CLNACC RCV000169670.1,