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: rs10789181
rs10789181
1 65350884 intron variant A/G snv 0.72
CUI: C1314691
Disease: Age at menarche
Age at menarche
0.700 1.000 1 2014 2014
dbSNP: rs1413885
rs1413885
1 65349976 intron variant C/T snv 0.72
CUI: C0919678
Disease: Protein S measurement
Protein S measurement
0.700 1.000 1 2011 2011
dbSNP: rs1413885
rs1413885
1 65349976 intron variant C/T snv 0.72
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement
0.700 1.000 1 2011 2011
dbSNP: rs1413885
rs1413885
1 65349976 intron variant C/T snv 0.72
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
0.700 1.000 1 2011 2011
dbSNP: rs2477786
rs2477786
1.000 0.080 1 65266559 intron variant C/T snv 0.20
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.700 1.000 1 2011 2011
dbSNP: rs6672992
rs6672992
1 65382351 intron variant A/C snv 0.12
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs879255630
rs879255630
0.925 1 65411394 missense variant A/G snv
PARKINSON DISEASE 19A, JUVENILE-ONSET
0.700 1.000 1 2016 2016
dbSNP: rs398122404
rs398122404
1.000 1 65385710 splice acceptor variant A/G snv
PARKINSON DISEASE 19A, JUVENILE-ONSET
0.700 0
dbSNP: rs398122405
rs398122405
1.000 1 65406052 stop gained C/T snv
PARKINSON DISEASE 19A, JUVENILE-ONSET
0.700 0
dbSNP: rs864622011
rs864622011
1.000 1 65366107 stop gained C/T snv 7.0E-06
PARKINSON DISEASE 19A, JUVENILE-ONSET
0.700 0
dbSNP: rs879255554
rs879255554
1.000 1 65401876 synonymous variant A/T snv 1.4E-05
CUI: C4310802
Disease: PARKINSON DISEASE 19B, EARLY-ONSET
PARKINSON DISEASE 19B, EARLY-ONSET
0.700 0
dbSNP: rs879255630
rs879255630
0.925 1 65411394 missense variant A/G snv
CUI: C4310802
Disease: PARKINSON DISEASE 19B, EARLY-ONSET
PARKINSON DISEASE 19B, EARLY-ONSET
0.700 0
dbSNP: rs886039854
rs886039854
1.000 1 65408685 stop gained C/G;T snv
PARKINSON DISEASE 19A, JUVENILE-ONSET
0.700 0