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rs111734407

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111734407(C;C)
Make rs111734407(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position47696408
GenePHKB
is asnp
is mentioned by
dbSNPrs111734407
ebirs111734407
HLIrs111734407
Exacrs111734407
Varsomers111734407
Maprs111734407
PheGenIrs111734407
hapmaprs111734407
1000 genomesrs111734407
hgdprs111734407
ensemblrs111734407
gopubmedrs111734407
geneviewrs111734407
scholarrs111734407
googlers111734407
pharmgkbrs111734407
gwascentralrs111734407
openSNPrs111734407
23andMers111734407
23andMe allrs111734407
SNP Nexus

SNPshotrs111734407
SNPdbers111734407
MSV3drs111734407
GWAS Ctlgrs111734407
Max Magnitude0
ClinVar
Risk rs111734407(A,C;A,C)
Alt rs111734407(A,C;A,C)
Reference rs111734407(T;T)
Significance Pathogenic
Disease Glycogen storage disease IXb
Variation info
Gene PHKB
CLNDBN Glycogen storage disease IXb
Reversed 0
HGVS NC_000016.9:g.47730319T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014591.26,