Source: ALL

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: rs121917763
rs121917763
TH
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C2673535
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		0.800 1.000 22 1995 2014
dbSNP: rs121917763
rs121917763
TH
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0013421
Disease: Dystonia
Dystonia 		0.710 1.000 8 1991 2014
dbSNP: rs121917763
rs121917763
TH
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.030 1.000 3 1996 1999
dbSNP: rs121917763
rs121917763
TH
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.010 1.000 1 1999 1999
dbSNP: rs121917763
rs121917763
TH
0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 1998 1998