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: rs797045399
rs797045399
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: rs367775730
rs367775730
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: rs72554639
rs72554639
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: rs72554652
rs72554652
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: rs72554642
rs72554642
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: rs72554646
rs72554646
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: rs72554651
rs72554651
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: rs72554654
rs72554654
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
dbSNP: rs72554655
rs72554655
1.000 0.160 X 78040695 missense variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
0.700 1.000 10 1994 2012
dbSNP: rs72554657
rs72554657
1.000 0.160 X 78042687 missense variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
0.700 1.000 10 1994 2012
dbSNP: rs797045390
rs797045390
1.000 0.160 X 78042726 missense variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
0.800 1.000 1 2011 2011
dbSNP: rs138958687
rs138958687
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
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: rs1557236754
rs1557236754
1.000 0.160 X 78029382 missense variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
0.700 0
dbSNP: rs1557237050
rs1557237050
1.000 0.160 X 78031428 missense variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
0.700 0
dbSNP: rs797045344
rs797045344
1.000 0.160 X 78011498 missense variant G/A;C snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
0.700 0
dbSNP: rs797045348
rs797045348
1.000 0.160 X 78011674 missense variant G/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
0.700 0
dbSNP: rs797045350
rs797045350
1.000 0.160 X 78012889 missense variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
0.700 0
dbSNP: rs797045354
rs797045354
1.000 0.160 X 78013063 missense variant T/G snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
0.700 0
dbSNP: rs797045360
rs797045360
1.000 0.160 X 78015810 missense variant C/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
0.700 0
dbSNP: rs797045362
rs797045362
1.000 0.160 X 78020367 missense variant T/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
0.700 0
dbSNP: rs797045363
rs797045363
1.000 0.160 X 78020398 missense variant G/C snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
0.700 0
dbSNP: rs797045365
rs797045365
1.000 0.160 X 78029335 missense variant C/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
0.700 0
dbSNP: rs797045370
rs797045370
1.000 0.160 X 78031420 missense variant T/C;G snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
0.700 0
dbSNP: rs797045376
rs797045376
1.000 0.160 X 78033662 missense variant G/T snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome
0.700 0