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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 PSPH P78330 p.Val2Ile rs77329757 variant of unknown significance
Detail
0.47 (T)
0.001 (N)
N
2 PSPH P78330 p.Arg27Ser rs74445297 variant of unknown significance
1l8o
A
Detail
0.71 (T)
0.001 (N)
N
3 PSPH P78330 p.Asp32Asn rs104894035 Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023]
1l8o
A
Detail
0.02 (D)
0.926 (D)
D ( Predicted by rules : 1 2 )
4 PSPH P78330 p.Asp32Gly rs78599516 variant of unknown significance
1l8o
A
Detail
0.08 (T)
0.621 (D)
D ( Predicted by rules : 1 2 )
4 PSPH P78330 p.Gly39Ser rs147077540 variant of unknown significance
1l8o
A
Detail
0.08 (T)
1 (D)
D ( Predicted by rules : 1 )
3 PSPH P78330 p.Val40Ile rs141764548 variant of unknown significance
1l8o
A
Detail
0.27 (T)
0.314 (N)
N
4 PSPH P78330 p.Arg49Gln rs144281276 variant of unknown significance
1l8o
A
Detail
0.47 (T)
0.047 (N)
N
5 PSPH P78330 p.Arg49Trp rs79451216 variant of unknown significance
1l8o
A
Detail
0.01 (D)
0.018 (N)
D ( Predicted by rules : 1 )
3 PSPH P78330 p.Met52Thr rs104894036 Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023]
1l8o
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 PSPH P78330 p.Pro57Ser rs79321413 variant of unknown significance
1l8o
A
Detail
0.78 (T)
0 (N)
N
4 PSPH P78330 p.Leu68Pro rs78067484 variant of unknown significance
1l8o
A
Detail
0.01 (D)
0.093 (N)
D ( Predicted by rules : 1 2 3 )
5 PSPH P78330 p.Gln83His rs73343757 variant of unknown significance
1l8o
A
Detail
1.00 (T)
0 (N)
N
6 PSPH P78330 p.Gly90Ser rs75395437 variant of unknown significance
1l8o
A
Detail
0.04 (D)
0.837 (D)
D ( Predicted by rules : 1 2 )
4 PSPH P78330 p.Ser114Ile rs140301679 variant of unknown significance
1l8o
A
Detail
0.42 (T)
0.541 (D)
N
5 PSPH P78330 p.Asn133Ser rs148469975 variant of unknown significance
1l8o
A
Detail
0.03 (D)
0.611 (D)
D ( Predicted by rules : 1 2 )
4 PSPH P78330 p.Thr152Ile rs147304638 variant of unknown significance
1l8o
A
Detail
0.40 (T)
0.998 (D)
D ( Predicted by rules : 1 )
3 PSPH P78330 p.Glu167Lys rs192760982 variant of unknown significance
1l8o
A
Detail
(-)
(-)
N
4 PSPH P78330 p.Val217Ala rs73343752 variant of unknown significance
1l8o
A
Detail
0.77 (T)
0 (N)
N