Gene: PYGL ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149096315
rs149096315
PYGL
A 0.700 CausalMutation CLINVAR The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. 25266922

2014
dbSNP: rs756205397
rs756205397
PYGL ; ABHD12B
A 0.700 CausalMutation CLINVAR Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. 22899091

2013
dbSNP: rs113993982
rs113993982
PYGL
T 0.700 CausalMutation CLINVAR Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. 21646031

2012
dbSNP: rs113993981
rs113993981
PYGL
T 0.700 GeneticVariation CLINVAR Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. 9536091

1998
dbSNP: rs113993982
rs113993982
PYGL
T 0.700 CausalMutation CLINVAR Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI. 9529348

1998
dbSNP: rs113993982
rs113993982
PYGL
T 0.700 CausalMutation CLINVAR Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI. 9536091

1998
dbSNP: rs113993973
rs113993973
PYGL
A 0.700 CausalMutation CLINVAR

dbSNP: rs113993974
rs113993974
PYGL
G 0.700 CausalMutation CLINVAR

dbSNP: rs113993976
rs113993976
PYGL
C 0.700 CausalMutation CLINVAR

dbSNP: rs113993977
rs113993977
PYGL
C 0.700 CausalMutation CLINVAR

dbSNP: rs113993978
rs113993978
PYGL
A 0.700 CausalMutation CLINVAR

dbSNP: rs113993979
rs113993979
PYGL
T 0.700 CausalMutation CLINVAR

dbSNP: rs113993980
rs113993980
PYGL
A 0.700 CausalMutation CLINVAR

dbSNP: rs113993981
rs113993981
PYGL
T 0.700 CausalMutation CLINVAR

dbSNP: rs113993983
rs113993983
PYGL
A 0.700 CausalMutation CLINVAR

dbSNP: rs113993984
rs113993984
PYGL
T 0.700 CausalMutation CLINVAR

dbSNP: rs113993985
rs113993985
PYGL
T 0.700 CausalMutation CLINVAR

dbSNP: rs113993986
rs113993986
PYGL
A 0.700 CausalMutation CLINVAR

dbSNP: rs113993988
rs113993988
PYGL
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555328280
rs1555328280
PYGL
A 0.700 CausalMutation CLINVAR

dbSNP: rs35026927
rs35026927
PYGL
G 0.700 CausalMutation CLINVAR

dbSNP: rs786204785
rs786204785
PYGL ; LOC105370492
GCTGATCTGCCGCCGCTTCTC 0.700 CausalMutation CLINVAR