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: 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: rs797045369
rs797045369
ATP7A ; PGK1
1.000 0.160 X 78031415 protein altering variant TTTGA/AGTACAGG delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045366
rs797045366
ATP7A ; PGK1
1.000 0.160 X 78029400 inframe deletion CATACTAATAAAAGG/- delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045392
rs797045392
ATP7A ; PGK1
1.000 0.160 X 78043322 inframe deletion TCT/- delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045341
rs797045341
ATP7A ; PGK1
1.000 0.160 X 78011257 splice region variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045347
rs797045347
ATP7A ; PGK1
1.000 0.160 X 78011679 splice region variant G/C snv
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: 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: rs797045398
rs797045398
ATP7A ; PGK1
1.000 0.160 X 78045577 splice region variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs794729231
rs794729231
ATP7A ; PGK1
1.000 0.160 X 78011448 splice acceptor variant G/A;C snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 1.000 1 2011 2011
dbSNP: rs1557238665
rs1557238665
ATP7A ; PGK1
0.882 0.240 X 78043316 splice acceptor variant G/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: 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
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: rs797045359
rs797045359
ATP7A ; PGK1
1.000 0.160 X 78015753 splice acceptor variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045367
rs797045367
ATP7A ; PGK1
1.000 0.160 X 78031399 splice acceptor variant G/A snv
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs1569549587
rs1569549587
ATP7A ; PGK1
1.000 0.160 X 77988529 frameshift variant CAATCAGA/- del
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs1569549974
rs1569549974
ATP7A ; PGK1
0.882 0.240 X 78014722 frameshift variant G/- del
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: 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: 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: 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: rs797045353
rs797045353
ATP7A ; PGK1
1.000 0.160 X 78013008 frameshift variant G/- del
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0
dbSNP: rs797045355
rs797045355
ATP7A ; PGK1
1.000 0.160 X 78013101 frameshift variant CATATAGCAAA/AGCATC delins
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.700 0