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: rs1057518827
rs1057518827
3 1.000 0.040 1 247425248 missense variant A/G snv 0.700 0
dbSNP: rs1057518886
rs1057518886
5 11 119090043 frameshift variant C/- delins 0.700 0
dbSNP: rs1554785242
rs1554785242
8 0.882 0.160 9 133426240 missense variant G/T snv 0.700 0
dbSNP: rs1554791280
rs1554791280
8 0.882 0.160 9 133442718 missense variant T/C snv 0.700 0
dbSNP: rs1555889984
rs1555889984
5 0.925 0.120 21 34834536 stop gained C/A snv 0.700 0
dbSNP: rs1567608853
rs1567608853
6 0.925 0.160 16 88646212 non coding transcript exon variant G/C snv 0.700 0
dbSNP: rs200956636
rs200956636
5 0.925 0.280 15 55205623 stop gained G/A snv 6.8E-05 6.3E-05 0.700 0
dbSNP: rs62641689
rs62641689
2 15 73323818 missense variant C/A;T snv 3.2E-03 0.700 0
dbSNP: rs72554640
rs72554640
9 0.882 0.160 X 78011239 stop gained C/T snv 0.700 0
dbSNP: rs864309530
rs864309530
3 1 235806165 missense variant G/T snv 0.700 0
dbSNP: rs61752717
rs61752717
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.030 1.000 3 2000 2016
dbSNP: rs2229291
rs2229291
8 0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 0.020 1.000 2 2014 2014
dbSNP: rs28934897
rs28934897
MVK
10 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.020 1.000 2 2015 2016
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2009 2009
dbSNP: rs104895271
rs104895271
6 0.851 0.240 12 6334161 missense variant A/C;G snv 1.6E-04; 4.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs104895358
rs104895358
MVK
2 12 109595148 missense variant G/A snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs1055229
rs1055229
2 1.000 0.040 2 207666959 non coding transcript exon variant C/T snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs1064797245
rs1064797245
12 0.776 0.280 19 41970540 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs11568658
rs11568658
3 0.925 0.040 13 95210754 missense variant C/A snv 4.9E-02 3.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs11575933
rs11575933
3 0.925 0.080 9 133436943 missense variant C/T snv 5.8E-03 2.3E-03 0.010 1.000 1 2013 2013
dbSNP: rs118192161
rs118192161
5 0.882 0.120 19 38444211 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs1187636039
rs1187636039
5 0.925 0.120 3 89341043 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1204135596
rs1204135596
1 1 247425398 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121917748
rs121917748
4 0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05 0.010 1.000 1 2002 2002