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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs797045339
rs797045339
ATP7A ; PGK1
1.000 0.160 X 78011180 stop gained T/G snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045342
rs797045342
ATP7A ; PGK1
1.000 0.160 X 78011452 stop gained G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045346
rs797045346
ATP7A ; PGK1
1.000 0.160 X 78011662 stop gained T/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045351
rs797045351
ATP7A ; PGK1
1.000 0.160 X 78012893 stop gained G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045372
rs797045372
ATP7A ; PGK1
1.000 0.160 X 78031573 stop gained T/G snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045373
rs797045373
ATP7A ; PGK1
1.000 0.160 X 78031576 stop gained C/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045377
rs797045377
ATP7A ; PGK1
1.000 0.160 X 78033689 stop gained G/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045378
rs797045378
ATP7A ; PGK1
1.000 0.160 X 78033776 stop gained C/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045379
rs797045379
ATP7A ; PGK1
1.000 0.160 X 78033812 stop gained C/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045383
rs797045383
ATP7A ; PGK1
1.000 0.160 X 78040706 stop gained T/ATGACTGG delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0