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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 PHKG2 P15735 p.Ala59Thr rs144930894 variant of unknown significance
Detail
0.59 (T)
0.025 (N)
N
2 PHKG2 P15735 p.Arg61Gln rs147950160 variant of unknown significance
Detail
0.51 (T)
0.73 (D)
N
3 PHKG2 P15735 p.Arg76Gln rs138299462 variant of unknown significance
Detail
0.29 (T)
0.18 (N)
N
4 PHKG2 P15735 p.Gly86Ser rs143983247 variant of unknown significance
Detail
0.14 (T)
0.53 (D)
N
5 PHKG2 P15735 p.Val106Glu rs137853589 Glycogen storage disease type 9C (GSD9C) [MIM:613027]
Detail
0.00 (D)
1 (D)
N
6 PHKG2 P15735 p.Arg135Trp rs148036324 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
7 PHKG2 P15735 p.Ser142Ile rs141710432 variant of unknown significance
Detail
0.18 (T)
0.301 (N)
N
8 PHKG2 P15735 p.His145Tyr rs137853591 GLYCOGEN STORAGE DISEASE IXc [MIM:172471#0006]
Detail
0.00 (D)
1 (D)
N
9 PHKG2 P15735 p.Asp153Val rs146036666 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
10 PHKG2 P15735 p.Glu157Lys - Glycogen storage disease type 9C (GSD9C) [MIM:613027]
Detail
0.01 (D)
1 (D)
N
11 PHKG2 P15735 p.His177Leu rs139116127 variant of unknown significance
Detail
0.67 (T)
0.001 (N)
N
12 PHKG2 P15735 p.His177Asp rs45612445 variant of unknown significance
Detail
0.26 (T)
0.051 (N)
N
13 PHKG2 P15735 p.Arg185Leu rs61733974 variant of unknown significance
Detail
0.59 (T)
0.797 (D)
N
14 PHKG2 P15735 p.Arg185Gln rs61733974 variant of unknown significance
Detail
0.29 (T)
0.981 (D)
N
15 PHKG2 P15735 p.Gly189Glu rs137853588 Glycogen storage disease type 9C (GSD9C) [MIM:613027]
Detail
0.00 (D)
1 (D)
N
16 PHKG2 P15735 p.Met203Thr rs192866993 variant of unknown significance
Detail
(-)
(-)
N
17 PHKG2 P15735 p.Asp215Asn - Glycogen storage disease type 9C (GSD9C) [MIM:613027]
Detail
0.00 (D)
1 (D)
N
18 PHKG2 P15735 p.Cys219Ser rs189032780 variant of unknown significance
Detail
(-)
(-)
N
19 PHKG2 P15735 p.Leu226Arg rs137853592 GLYCOGEN STORAGE DISEASE IXc [MIM:172471#0007]
Detail
0.00 (D)
1 (D)
N
20 PHKG2 P15735 p.Arg236Gln rs143915773 variant of unknown significance
Detail
0.02 (D)
1 (D)
N
21 PHKG2 P15735 p.Glu247Gly rs34006569 variant of unknown significance
Detail
0.10 (T)
0.765 (D)
N
22 PHKG2 P15735 p.Arg260Cys rs148776797 variant of unknown significance
Detail
0.01 (D)
0.004 (N)
N
23 PHKG2 P15735 p.Ser261Cys rs144792786 variant of unknown significance
Detail
0.00 (D)
1 (D)
N
24 PHKG2 P15735 p.Val264Ala rs111883335 variant of unknown significance
Detail
1.00 (T)
0.009 (N)
N
25 PHKG2 P15735 p.Arg307Gln rs145390070 variant of unknown significance
Detail
0.26 (T)
0.883 (D)
N
26 PHKG2 P15735 p.Ala317Thr - variant of unknown significance
Detail
0.25 (T)
0.704 (D)
N
27 PHKG2 P15735 p.Asp351Asn rs151033581 variant of unknown significance
Detail
0.10 (T)
1 (D)
N
28 PHKG2 P15735 p.Arg356Trp rs140913831 variant of unknown significance
Detail
0.01 (D)
1 (D)
N
29 PHKG2 P15735 p.Ala394Gly rs145746592 variant of unknown significance
Detail
0.59 (T)
0 (N)
N
30 PHKG2 P15735 p.Ala395Val rs141025408 variant of unknown significance
Detail
0.28 (T)
0.007 (N)
N