rs137852886
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137852887
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137852889
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137852888
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs80338671
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs137852890
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137852894
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553690406
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1559637815
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs397515343
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs397515344
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs763016962
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs80338672
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs80338673
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137852886
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
|
8613547 |
1996 |
rs80338671
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
The Y329S allele was also detected in another patient with the nonprogressive form of GSD-IV but not in 35 unrelated controls or in patients with the more severe forms of GSD-IV.
|
8613547 |
1996 |
rs80338671
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
The Y329S allele was also detected in another patient with the nonprogressive form of GSD-IV but not in 35 unrelated controls or in patients with the more severe forms of GSD-IV.
|
8613547 |
1996 |
rs80338671
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.
|
9851430 |
1998 |
rs192044702
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.
|
9851430 |
1998 |
rs201958741
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.
|
10762170 |
2000 |
rs1057517315
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A neonatal form of glycogen storage disease type IV.
|
12913206 |
2003 |
rs192044702
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
|
15452297 |
2004 |
rs766935302
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
|
15452297 |
2004 |
rs766935302
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
|
15452297 |
2004 |
rs766935302
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
"Neonatal type IV glycogen storage disease associated with ""null"" mutations in glycogen branching enzyme 1."
|
15520786 |
2004 |