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: 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: 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: 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: 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: 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: 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: 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: 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