Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045400
rs797045400
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs797045399
rs797045399
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs797045398
rs797045398
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs797045397
rs797045397
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs797045396
rs797045396
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs797045395
rs797045395
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		TA 0.700 CausalMutation CLINVAR

dbSNP: rs797045394
rs797045394
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs797045393
rs797045393
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs797045392
rs797045392
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs797045391
rs797045391
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs797045390
rs797045390
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Menkes disease. 21487442

2011
dbSNP: rs797045390
rs797045390
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs797045389
rs797045389
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs797045388
rs797045388
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		G 0.700 CausalMutation CLINVAR

dbSNP: rs797045387
rs797045387
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs797045386
rs797045386
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs797045385
rs797045385
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs797045384
rs797045384
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		TTAC 0.700 CausalMutation CLINVAR

dbSNP: rs797045383
rs797045383
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		ATGACTGG 0.700 CausalMutation CLINVAR

dbSNP: rs797045382
rs797045382
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs797045380
rs797045380
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs797045379
rs797045379
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs797045378
rs797045378
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs797045377
rs797045377
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs797045376
rs797045376
ATP7A ; PGK1
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		T 0.700 GeneticVariation CLINVAR