Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs72554639
rs72554639
ATP7A ; PGK1
1.000 0.160 X 78011191 missense variant G/C snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.810 1.000 11 1994 2012
dbSNP: rs72554652
rs72554652
ATP7A ; PGK1
1.000 0.160 X 78029389 missense variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.810 1.000 11 1994 2012
dbSNP: rs72554644
rs72554644
ATP7A ; PGK1
1.000 0.160 X 78012885 stop gained G/A;T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.800 1.000 11 1994 2012
dbSNP: rs797045390
rs797045390
ATP7A ; PGK1
1.000 0.160 X 78042726 missense variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.800 1.000 1 2011 2011
dbSNP: rs72554646
rs72554646
ATP7A ; PGK1
1.000 0.160 X 78015873 missense variant T/G snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.710 1.000 10 1994 2012
dbSNP: rs367775730
rs367775730
ATP7A ; PGK1
1.000 0.160 X 78015786 missense variant G/A snv 2.1E-04 8.5E-05
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 1.000 11 1994 2012
dbSNP: rs72554642
rs72554642
ATP7A ; PGK1
1.000 0.160 X 78011619 missense variant T/G snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 1.000 10 1994 2012
dbSNP: rs72554651
rs72554651
ATP7A ; PGK1
1.000 0.160 X 78029350 missense variant T/C snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 1.000 10 1994 2012
dbSNP: rs72554654
rs72554654
ATP7A ; PGK1
1.000 0.160 X 78033663 missense variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 1.000 10 1994 2012
dbSNP: rs72554655
rs72554655
ATP7A ; PGK1
1.000 0.160 X 78040695 missense variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 1.000 10 1994 2012
dbSNP: rs72554657
rs72554657
ATP7A ; PGK1
1.000 0.160 X 78042687 missense variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 1.000 10 1994 2012