ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Disease: Menkes Kinky Hair Syndrome ×
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: rs797045395
rs797045395 		1.000 0.160 X 78045477 frameshift variant -/A delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045352
rs797045352 		1.000 0.160 X 78012951 frameshift variant -/ATTG delins 5.5E-06
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045361
rs797045361 		1.000 0.160 X 78020261 frameshift variant -/C delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045327
rs797045327 		1.000 0.160 X 77989640 frameshift variant -/GGGGC delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045358
rs797045358 		1.000 0.160 X 78015751 coding sequence variant -/GTGAAGA delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045343
rs797045343 		1.000 0.160 X 78011478 frameshift variant -/TTCTGTATTCCTGTAATGGGGCTGATGATAT delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045380
rs797045380 		1.000 0.160 X 78038859 frameshift variant A/- delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs138958687
rs138958687 		1.000 0.160 X 78021066 missense variant A/G snv 7.0E-04 4.6E-04
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs151340632
rs151340632 		0.925 0.240 X 78042694 missense variant A/G snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045349
rs797045349 		1.000 0.160 X 78012877 splice acceptor variant A/G snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045387
rs797045387 		1.000 0.160 X 78040737 splice region variant A/G;T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045385
rs797045385 		1.000 0.160 X 78040732 missense variant A/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045384
rs797045384 		1.000 0.160 X 78040707 frameshift variant AA/TTAC delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045364
rs797045364 		1.000 0.160 X 78021080 splice region variant AAGT/- delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045397
rs797045397 		0.882 0.240 X 77988541 frameshift variant AG/- delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045356
rs797045356 		1.000 0.160 X 78013111 splice donor variant AGG/T delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045389
rs797045389 		1.000 0.160 X 78042700 frameshift variant C/- delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1557237451
rs1557237451 		0.882 0.240 X 78033783 stop gained C/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045330
rs797045330 		1.000 0.160 X 77998601 stop gained C/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045373
rs797045373 		1.000 0.160 X 78031576 stop gained C/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045336
rs797045336 		1.000 0.160 X 78009176 stop gained C/G snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045388
rs797045388 		1.000 0.160 X 78042703 missense variant C/G snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs151340631
rs151340631 		0.925 0.240 X 78011216 stop gained C/G;T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs151340633
rs151340633 		1.000 0.160 X 77988722 stop gained C/T snv 5.5E-06
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.710 1.000 1 2009 2009
dbSNP: rs72554636
rs72554636 		1.000 0.160 X 77989847 stop gained C/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0