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rs12918964

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs12918964(C;T)
Make rs12918964(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position47698565
GenePHKB
is asnp
is mentioned by
dbSNPrs12918964
dbSNP (classic)rs12918964
ClinGenrs12918964
ebirs12918964
HLIrs12918964
Exacrs12918964
Gnomadrs12918964
Varsomers12918964
LitVarrs12918964
Maprs12918964
PheGenIrs12918964
Biobankrs12918964
1000 genomesrs12918964
hgdprs12918964
ensemblrs12918964
geneviewrs12918964
scholarrs12918964
googlers12918964
pharmgkbrs12918964
gwascentralrs12918964
openSNPrs12918964
23andMers12918964
SNPshotrs12918964
SNPdbers12918964
MSV3drs12918964
GWAS Ctlgrs12918964
GMAF0.001377
Max Magnitude0
? (C;C) (C;T) (T;T) 28



ClinVar
Risk rs12918964(T;T)
Alt rs12918964(T;T)
Reference Rs12918964(C;C)
Significance Non-pathogenic
Disease Glycogen phosphorylase kinase deficiency not specified
Variation info
Gene PHKB
CLNDBN Glycogen phosphorylase kinase deficiency not specified
Reversed 0
HGVS NC_000016.9:g.47732476C>T
CLNSRC
CLNACC RCV000380256.1, RCV000429403.1,