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: rs10006327
rs10006327
SLC9B1
1 1.000 0.080 4 102969823 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs10027347
rs10027347
ARHGAP10
1 1.000 0.080 4 148025539 intron variant G/T snv 7.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs10033464
rs10033464 		8 0.807 0.200 4 110799605 downstream gene variant T/G snv 0.86 0.900 0.933 15 2007 2019
dbSNP: rs10163755
rs10163755
DSG4 ; DSG1-AS1
6 0.827 0.200 18 31405413 intron variant G/A snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs10165883
rs10165883 		1 1.000 0.080 2 69889883 upstream gene variant C/T snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs10213171
rs10213171
ARHGAP10
1 1.000 0.080 4 148016386 intron variant C/G snv 0.12 0.700 1.000 2 2018 2018
dbSNP: rs10240738
rs10240738
AOC1 ; LOC105375567
1 1.000 0.080 7 150847046 intron variant C/T snv 0.59 0.010 1.000 1 2014 2014
dbSNP: rs10401969
rs10401969
SUGP1
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs10428132
rs10428132
SCN10A
2 0.925 0.120 3 38736063 intron variant T/G snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs1044258
rs1044258
ARMH3 ; LOC107984029
2 1.000 0.080 10 101845957 3 prime UTR variant T/C snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs10458660
rs10458660
LRMDA
1 1.000 0.080 10 76176818 intron variant A/G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs10465885
rs10465885
GJA5 ; LOC102723321
4 0.882 0.080 1 147760632 intron variant T/A;C snv 0.710 1.000 2 2011 2018
dbSNP: rs1046934
rs1046934
TSEN15
4 1.000 0.080 1 184054395 missense variant A/C;G;T snv 0.34; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs10479177
rs10479177
FAM13B
1 1.000 0.080 5 138052751 upstream gene variant A/G snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs104893904
rs104893904
NKX2-5
6 0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04 0.010 1.000 1 2014 2014
dbSNP: rs104894021
rs104894021
KCNH2
5 0.851 0.120 7 150951629 missense variant G/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1049334
rs1049334
CAV1
6 0.851 0.280 7 116560326 3 prime UTR variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs10501920
rs10501920
CNTN5
3 0.882 0.080 11 99622442 intron variant C/G snv 0.14 0.010 1.000 1 2007 2007
dbSNP: rs10504554
rs10504554
LY96
1 1.000 0.080 8 74007478 intron variant T/C snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs10520260
rs10520260
HAND2
1 1.000 0.080 4 173526198 3 prime UTR variant A/G snv 0.27 0.700 1.000 2 2018 2018
dbSNP: rs10741807
rs10741807
NAV2
1 1.000 0.080 11 19989899 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs10749053
rs10749053
RBM20
1 1.000 0.080 10 110816937 intron variant T/A;C snv 0.700 1.000 2 2018 2018
dbSNP: rs10753933
rs10753933
PPFIA4
1 1.000 0.080 1 203057086 intron variant T/G snv 0.47 0.700 1.000 2 2018 2018
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.020 1.000 2 2009 2016