Source: CURATED

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: rs138958687
rs138958687
ATP7A ; PGK1
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 		0.700 0
dbSNP: rs151340631
rs151340631
ATP7A ; PGK1
0.925 0.240 X 78011216 stop gained C/G;T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs151340632
rs151340632
ATP7A ; PGK1
0.925 0.240 X 78042694 missense variant A/G snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs1557236729
rs1557236729
ATP7A ; PGK1
1.000 0.080 X 78029305 missense variant C/A snv
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.700 0
dbSNP: rs1557236754
rs1557236754
ATP7A ; PGK1
1.000 0.160 X 78029382 missense variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs1557236762
rs1557236762
ATP7A ; PGK1
0.925 0.240 X 78029445 splice donor variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs1557236762
rs1557236762
ATP7A ; PGK1
0.925 0.240 X 78029445 splice donor variant G/A snv
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.700 0
dbSNP: rs1557237050
rs1557237050
ATP7A ; PGK1
1.000 0.160 X 78031428 missense variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs1557237451
rs1557237451
ATP7A ; PGK1
0.882 0.240 X 78033783 stop gained C/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs1557237451
rs1557237451
ATP7A ; PGK1
0.882 0.240 X 78033783 stop gained C/A snv
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.700 0
dbSNP: rs1557237451
rs1557237451
ATP7A ; PGK1
0.882 0.240 X 78033783 stop gained C/A snv
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.700 0
dbSNP: rs1557238665
rs1557238665
ATP7A ; PGK1
0.882 0.240 X 78043316 splice acceptor variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs1557238665
rs1557238665
ATP7A ; PGK1
0.882 0.240 X 78043316 splice acceptor variant G/A snv
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.700 0
dbSNP: rs1557238665
rs1557238665
ATP7A ; PGK1
0.882 0.240 X 78043316 splice acceptor variant G/A snv
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.700 0
dbSNP: rs1569549587
rs1569549587
ATP7A ; PGK1
1.000 0.160 X 77988529 frameshift variant CAATCAGA/- del
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs1569549699
rs1569549699
ATP7A ; PGK1
0.882 0.240 X 77998678 stop gained G/T snv
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.700 0
dbSNP: rs1569549699
rs1569549699
ATP7A ; PGK1
0.882 0.240 X 77998678 stop gained G/T snv
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.700 0
dbSNP: rs1569549699
rs1569549699
ATP7A ; PGK1
0.882 0.240 X 77998678 stop gained G/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs1569549753
rs1569549753
ATP7A ; PGK1
1.000 0.160 X 78003237 splice donor variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs1569549974
rs1569549974
ATP7A ; PGK1
0.882 0.240 X 78014722 frameshift variant G/- del
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs1569549974
rs1569549974
ATP7A ; PGK1
0.882 0.240 X 78014722 frameshift variant G/- del
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.700 0
dbSNP: rs1569549974
rs1569549974
ATP7A ; PGK1
0.882 0.240 X 78014722 frameshift variant G/- del
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.700 0
dbSNP: rs1569550376
rs1569550376
ATP7A ; PGK1
1.000 0.160 X 78046417 frameshift variant G/- delins
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.700 0
dbSNP: rs267606672
rs267606672
ATP7A ; PGK1
0.925 0.080 X 78045502 missense variant C/T snv
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.800 0
dbSNP: rs267606673
rs267606673
ATP7A ; PGK1
0.776 0.240 X 78029314 missense variant C/T snv
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.700 0