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: rs797045395
rs797045395
ATP7A ; PGK1
1.000 0.160 X 78045477 frameshift variant -/A delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045352
rs797045352
ATP7A ; PGK1
1.000 0.160 X 78012951 frameshift variant -/ATTG delins 5.5E-06
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045361
rs797045361
ATP7A ; PGK1
1.000 0.160 X 78020261 frameshift variant -/C delins
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: rs797045358
rs797045358
ATP7A ; PGK1
1.000 0.160 X 78015751 coding sequence variant -/GTGAAGA delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045343
rs797045343
ATP7A ; PGK1
1.000 0.160 X 78011478 frameshift variant -/TTCTGTATTCCTGTAATGGGGCTGATGATAT delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045380
rs797045380
ATP7A ; PGK1
1.000 0.160 X 78038859 frameshift variant A/- delins
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: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.810 1.000 5 1997 2012
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: 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: rs797045349
rs797045349
ATP7A ; PGK1
1.000 0.160 X 78012877 splice acceptor variant A/G snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045387
rs797045387
ATP7A ; PGK1
1.000 0.160 X 78040737 splice region variant A/G;T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045385
rs797045385
ATP7A ; PGK1
1.000 0.160 X 78040732 missense variant A/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045384
rs797045384
ATP7A ; PGK1
1.000 0.160 X 78040707 frameshift variant AA/TTAC delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045364
rs797045364
ATP7A ; PGK1
1.000 0.160 X 78021080 splice region variant AAGT/- 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: 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: rs797045356
rs797045356
ATP7A ; PGK1
1.000 0.160 X 78013111 splice donor variant AGG/T delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045389
rs797045389
ATP7A ; PGK1
1.000 0.160 X 78042700 frameshift variant C/- delins
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: 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: 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