ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
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.
dbSNP: rs151340632
rs151340632
0.925 0.240 X 78042694 missense variant A/G snv
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.810 1.000 5 1997 2012
dbSNP: rs151340631
rs151340631
0.925 0.240 X 78011216 stop gained C/G;T snv
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 1.000 5 1997 2012
dbSNP: rs1557236762
rs1557236762
0.925 0.240 X 78029445 splice donor variant G/A snv
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1557237451
rs1557237451
0.882 0.240 X 78033783 stop gained C/A snv
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1557238665
rs1557238665
0.882 0.240 X 78043316 splice acceptor variant G/A snv
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1569549699
rs1569549699
0.882 0.240 X 77998678 stop gained G/T snv
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1569549974
rs1569549974
0.882 0.240 X 78014722 frameshift variant G/- del
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1569550376
rs1569550376
1.000 0.160 X 78046417 frameshift variant G/- delins
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs797045332
rs797045332
0.882 0.240 X 78003168 stop gained C/T snv
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs797045397
rs797045397
0.882 0.240 X 77988541 frameshift variant AG/- delins
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0