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: rs10055201
rs10055201
IL31RA
3 0.882 0.080 5 55865274 intron variant A/G snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs10895322
rs10895322
MMP20
4 0.851 0.120 11 102599525 intron variant A/G snv 9.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2018 2018
dbSNP: rs1501899
rs1501899
CASR
8 0.790 0.240 3 122188481 intron variant A/G snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2014 2014
dbSNP: rs2168351
rs2168351
ST8SIA2
6 0.851 0.120 15 92440492 intron variant A/G snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs3768707
rs3768707
BARD1
3 0.882 0.080 2 214780411 intron variant A/G snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs3784730
rs3784730
ST8SIA2
6 0.851 0.120 15 92443898 intron variant A/G snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs7652589
rs7652589 		13 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs7973450
rs7973450
KRAS
3 0.882 0.080 12 25208208 3 prime UTR variant A/G snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs201698323
rs201698323
SCN10A
4 0.851 0.120 3 38742448 missense variant A/G;T snv 5.9E-04 0.010 1.000 1 2016 2016
dbSNP: rs758576072
rs758576072
RIMS2
4 0.851 0.160 8 104244917 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1211164799
rs1211164799
DLX4
3 0.882 0.080 17 49973938 missense variant A/T snv 0.010 1.000 1 1998 1998
dbSNP: rs121909536
rs121909536
ANG ; RNASE4
5 0.827 0.120 14 20693686 missense variant A/T snv 1.2E-03 9.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs63750215
rs63750215
PSEN2
19 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 1997 1997
dbSNP: rs2168101
rs2168101
LMO1 ; LOC105376536
7 0.827 0.200 11 8233861 intron variant C/A snv 0.24 0.030 1.000 3 2018 2020
dbSNP: rs9295536
rs9295536
CASC15
3 0.882 0.080 6 22131700 intron variant C/A snv 0.58 0.030 1.000 3 2016 2017
dbSNP: rs104893855
rs104893855
PHOX2B ; PHOX2B-AS1
4 0.851 0.160 4 41747479 missense variant C/A snv 0.010 1.000 1 2014 2014
dbSNP: rs143864187
rs143864187
CASP4
3 0.882 0.080 11 104949666 missense variant C/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1899663
rs1899663
HOTAIR
22 0.683 0.280 12 53967210 intron variant C/A snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs2302616
rs2302616
ODC1 ; SNORA80B ; ODC1-DT
3 0.882 0.080 2 10448065 intron variant C/A snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs514049
rs514049
ADAM10
6 0.827 0.160 15 58750164 intron variant C/A snv 0.57 0.010 1.000 1 2012 2012
dbSNP: rs75183227
rs75183227
TH
3 0.882 0.080 11 2169790 missense variant C/A snv 0.010 1.000 1 2017 2017