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: rs7078160
rs7078160
SHTN1
4 0.851 0.120 10 117068049 intron variant G/A snv 0.19 0.700 1.000 2 2015 2018
dbSNP: rs10130587
rs10130587
BMP4
5 0.851 0.200 14 53952392 intron variant G/C snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs10133673
rs10133673
SLC25A21
2 0.925 0.120 14 37068147 intron variant T/C snv 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs1038294
rs1038294
COL8A1
2 0.925 0.120 3 99784884 intron variant A/G snv 0.82 0.700 1.000 1 2017 2017
dbSNP: rs10512248
rs10512248
PTCH1
4 0.925 0.120 9 95497421 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10808812
rs10808812
ZFHX4-AS1 ; LOC107986952
2 0.925 0.120 8 76593073 intron variant T/C snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs10886040
rs10886040
SHTN1
3 0.882 0.120 10 117086783 intron variant C/G snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs11066150
rs11066150
NAA25
2 0.925 0.120 12 112080999 intron variant G/A snv 1.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs1139
rs1139
ZNF385B
4 0.851 0.200 2 179745354 intron variant C/T snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs11582254
rs11582254
TMCO4
2 0.925 0.120 1 19691584 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11597348
rs11597348
OPALIN
1 1.000 0.120 10 96354046 intron variant A/T snv 7.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs117496742
rs117496742
YAP1
1 1.000 0.120 11 102208982 intron variant G/A;T snv 1.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs11774066
rs11774066
STK3
2 0.925 0.120 8 98443083 intron variant C/T snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs12175475
rs12175475
PRKN
1 1.000 0.120 6 162250424 intron variant A/T snv 2.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs12229892
rs12229892
PTPN11
6 0.807 0.240 12 112485589 intron variant G/A snv 1.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs12375983
rs12375983 		2 0.925 0.120 9 89595154 intron variant G/A snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs12681366
rs12681366
RAD54B ; FSBP
2 0.925 0.120 8 94389037 intron variant T/C snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs12944377
rs12944377
NTN1
3 0.882 0.120 17 9044391 intron variant T/C snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs143238378
rs143238378
LINC02476
1 1.000 0.120 7 119626216 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1487022
rs1487022
VPS13B
2 0.925 0.120 8 99517598 intron variant G/T snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs150382487
rs150382487
LINC02476
1 1.000 0.120 7 119500548 intron variant T/A snv 2.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs1688766
rs1688766
FILIP1L ; CMSS1
2 0.925 0.120 3 99929006 intron variant G/A snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs182830500
rs182830500
LINC02476
1 1.000 0.120 7 119521299 intron variant T/C snv 2.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs1878918
rs1878918
NRG1
2 0.925 0.120 8 32476054 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs188681640
rs188681640
LINC02476
1 1.000 0.120 7 119506105 intron variant A/G snv 2.4E-03 0.700 1.000 1 2019 2019