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: 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
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: 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: 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: rs72554640
rs72554640
ATP7A ; PGK1
0.882 0.160 X 78011239 stop gained C/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
0.882 0.160 X 78011239 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
0.882 0.160 X 78011239 stop gained C/T snv
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		0.700 0
dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
0.882 0.160 X 78011239 stop gained C/T snv
CUI: C0015967
Disease: Fever
Fever 		0.700 0
dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
0.882 0.160 X 78011239 stop gained C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
0.882 0.160 X 78011239 stop gained C/T snv
CUI: C0030232
Disease: Pallor
Pallor 		0.700 0
dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
0.882 0.160 X 78011239 stop gained C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
0.882 0.160 X 78011239 stop gained C/T snv
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		0.700 0
dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
0.882 0.160 X 78011239 stop gained C/T snv
CUI: C4023722
Disease: Abnormality of hair texture
Abnormality of hair texture 		0.700 0
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: 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: rs72554645
rs72554645
ATP7A ; PGK1
1.000 0.160 X 78013089 stop gained C/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
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: rs72554649
rs72554649
ATP7A ; PGK1
1.000 0.160 X 78029271 stop gained C/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs72554650
rs72554650
ATP7A ; PGK1
1.000 0.160 X 78029289 stop gained C/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
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: 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: 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