Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2007 2012
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1049550
rs1049550
ANXA11
4 0.882 0.160 10 80166946 missense variant G/A;C snv 0.42; 4.2E-06 0.010 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs11571836
rs11571836
BRCA2
6 0.827 0.200 13 32399302 3 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs120074192
rs120074192
KCNQ1
10 0.763 0.120 11 2527959 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2007 2007
dbSNP: rs121964941
rs121964941
F10
2 0.925 0.120 13 113149170 missense variant T/C snv 0.010 1.000 1 1996 1996
dbSNP: rs1799943
rs1799943
BRCA2
5 0.925 0.080 13 32316435 5 prime UTR variant G/A;C;T snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2010 2010
dbSNP: rs28933385
rs28933385
PRNP
25 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs3918290
rs3918290
DPYD
3 0.882 0.080 1 97450058 splice donor variant C/G;T snv 8.0E-06; 5.6E-03 0.010 1.000 1 2016 2016
dbSNP: rs4242382
rs4242382 		9 0.763 0.240 8 127505328 intergenic variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs5068
rs5068
CLCN6 ; NPPA ; NPPA-AS1
13 0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs765371999
rs765371999
CLCN2
2 0.925 0.120 3 184355490 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs573951598
rs573951598
CYP27A1
3 0.882 0.200 2 218814408 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121434569
rs121434569
EGFR ; EGFR-AS1
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs72653744
rs72653744
ABCC6
14 0.807 0.320 16 16163009 stop gained G/A snv 1.7E-04 1.2E-04 0.010 1.000 1 2001 2001
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 1999 1999
dbSNP: rs1801160
rs1801160
DPYD ; DPYD-AS1
6 0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs5745687
rs5745687
HGF
2 1.000 0.040 7 81729735 missense variant C/T snv 4.6E-02 4.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs3737884
rs3737884
ADIPOR1
3 0.882 0.160 1 202944076 non coding transcript exon variant C/T snv 7.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs2297595
rs2297595
DPYD
10 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 1999 1999
dbSNP: rs3748034
rs3748034
HGFAC
2 1.000 0.040 4 3444364 missense variant G/T snv 0.15 0.11 0.010 1.000 1 2015 2015