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: rs12837147
rs12837147
ATP7A ; PGK1
X 77914078 intron variant C/T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
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: rs797045397
rs797045397
ATP7A ; PGK1
0.882 0.240 X 77988541 frameshift variant AG/- delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045397
rs797045397
ATP7A ; PGK1
0.882 0.240 X 77988541 frameshift variant AG/- delins
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.700 0
dbSNP: rs797045397
rs797045397
ATP7A ; PGK1
0.882 0.240 X 77988541 frameshift variant AG/- delins
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.700 0
dbSNP: rs797045399
rs797045399
ATP7A ; PGK1
1.000 0.160 X 77988719 stop gained C/T snv 5.5E-06
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs151340633
rs151340633
ATP7A ; PGK1
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 		0.710 1.000 0 2009 2009
dbSNP: rs797045400
rs797045400
ATP7A ; PGK1
1.000 0.160 X 77989498 frameshift variant G/- del
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045325
rs797045325
ATP7A ; PGK1
1.000 0.160 X 77989628 stop gained G/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045327
rs797045327
ATP7A ; PGK1
1.000 0.160 X 77989640 frameshift variant -/GGGGC delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs72554636
rs72554636
ATP7A ; PGK1
1.000 0.160 X 77989847 stop gained C/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045329
rs797045329
ATP7A ; PGK1
1.000 0.160 X 77998496 frameshift variant T/- del
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045330
rs797045330
ATP7A ; PGK1
1.000 0.160 X 77998601 stop gained C/A snv
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: rs797045331
rs797045331
ATP7A ; PGK1
1.000 0.160 X 78003072 splice acceptor variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045332
rs797045332
ATP7A ; PGK1
0.882 0.240 X 78003168 stop gained C/T snv
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.700 0
dbSNP: rs797045332
rs797045332
ATP7A ; PGK1
0.882 0.240 X 78003168 stop gained C/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045332
rs797045332
ATP7A ; PGK1
0.882 0.240 X 78003168 stop gained C/T snv
CUI: C1845359
Disease: Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Distal, X-Linked 3 		0.700 0
dbSNP: rs797045333
rs797045333
ATP7A ; PGK1
1.000 0.160 X 78003195 frameshift variant TA/- delins
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: rs797045336
rs797045336
ATP7A ; PGK1
1.000 0.160 X 78009176 stop gained C/G snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045337
rs797045337
ATP7A ; PGK1
1.000 0.160 X 78009225 stop gained G/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045338
rs797045338
ATP7A ; PGK1
1.000 0.160 X 78011175 splice acceptor variant G/C snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0