ATP2A2, ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2, 488
N. diseases: 159; N. variants: 17
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 12 | 110339638 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.810 | 1.000 | 7 | 1999 | 2017 | ||||||||
|
1.000 | 0.080 | 12 | 110296666 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 6 | 1999 | 2017 | ||||||||
|
1.000 | 0.080 | 12 | 110281857 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 0 | |||||||||||
|
0.925 | 0.080 | 12 | 110342430 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 6 | 1999 | 2017 | ||||||||
|
0.925 | 0.080 | 12 | 110327725 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 6 | 1999 | 2017 | ||||||||
|
0.925 | 0.080 | 12 | 110342435 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 6 | 1999 | 2017 | ||||||||
|
1.000 | 0.080 | 12 | 110292122 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 12 | 110342388 | inframe deletion | ACA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 12 | 110340702 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2012 | 2017 |