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rs56257827

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs56257827(G;T)
Make rs56257827(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position47515562
GenePHKB
is asnp
is mentioned by
dbSNPrs56257827
ebirs56257827
HLIrs56257827
Exacrs56257827
Varsomers56257827
Maprs56257827
PheGenIrs56257827
hapmaprs56257827
1000 genomesrs56257827
hgdprs56257827
ensemblrs56257827
gopubmedrs56257827
geneviewrs56257827
scholarrs56257827
googlers56257827
pharmgkbrs56257827
gwascentralrs56257827
openSNPrs56257827
23andMers56257827
23andMe allrs56257827
SNP Nexus

SNPshotrs56257827
SNPdbers56257827
MSV3drs56257827
GWAS Ctlgrs56257827
GMAF0.005969
Max Magnitude0
ClinVar
Risk rs56257827(T;T)
Alt rs56257827(T;T)
Reference rs56257827(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene PHKB
CLNDBN not specified
Reversed 0
HGVS NC_000016.9:g.47549473G>T
CLNSRC
CLNACC RCV000179286.1,


GET Evidence
PHKB-M185I
aa_change Met185Ile
aa_change_short M185I
impact pathogenic
qualified_impact Moderate clinical importance, Uncertain pathogenic
overall_frequency 0.0105116
summary Reported to cause glycogen storage disease type IX in a recessive manner, but insufficient data is reported to establish significance.