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: rs1344706
rs1344706
ZNF804A
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.020 1.000 2 2011 2017
dbSNP: rs7597593
rs7597593
ZNF804A
6 0.827 0.160 2 184668853 intron variant T/C snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs183042538
rs183042538
ZHX3
3 0.925 0.040 20 41197420 intron variant A/T snv 3.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs10144845
rs10144845
YLPM1
2 1.000 0.040 14 74771067 intron variant C/T snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs199505
rs199505
WNT3 ; LRRC37A2
4 0.925 0.120 17 46782044 intron variant A/G snv 0.84 0.700 1.000 1 2018 2018
dbSNP: rs734312
rs734312
WFS1
10 0.790 0.240 4 6301627 missense variant G/A snv 0.55 0.42 0.030 0.667 3 2005 2015
dbSNP: rs1801206
rs1801206
WFS1
1 4 6300980 stop gained C/G;T snv 0.63 0.010 1.000 1 2005 2005
dbSNP: rs1801213
rs1801213
WFS1
1 4 6291969 synonymous variant C/G snv 0.72 0.68 0.010 1.000 1 2005 2005
dbSNP: rs55814513
rs55814513
WFS1
2 1.000 0.040 4 6301470 missense variant G/A;T snv 4.0E-03 0.010 1.000 1 1999 1999
dbSNP: rs17711053
rs17711053
VWC2L
2 1.000 0.040 2 214574984 intron variant A/G snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs2717043
rs2717043
VRK2
2 1.000 0.040 2 57951884 intron variant C/T snv 0.70 0.700 1.000 1 2018 2018
dbSNP: rs885861
rs885861
VIPR2 ; LINC00689
1 7 159028856 3 prime UTR variant G/A snv 0.43 0.010 1.000 1 2010 2010
dbSNP: rs659366
rs659366
UCP2
17 0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs660339
rs660339
UCP2
24 0.695 0.320 11 73978059 missense variant G/A snv 0.41 0.43 0.010 1.000 1 2017 2017
dbSNP: rs3819325
rs3819325
UBA7 ; MIR5193
2 1.000 0.040 3 49806290 non coding transcript exon variant T/C;G snv 0.38; 7.9E-04 0.700 1.000 1 2018 2018
dbSNP: rs11214589
rs11214589
TTC12
2 1.000 0.040 11 113374326 intron variant G/A snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs2298489
rs2298489
TTC12
2 1.000 0.040 11 113364697 splice region variant A/G snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs1800532
rs1800532
TPH1
15 0.763 0.160 11 18026269 intron variant G/T snv 0.33 0.020 1.000 2 2012 2012
dbSNP: rs112106319
rs112106319
TNC ; DELEC1
3 0.925 0.040 9 115094539 intron variant A/T snv 2.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs10950393
rs10950393
TMEM106B
2 1.000 0.040 7 12223920 intron variant T/C snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs4630333
rs4630333
TIMELESS
4 0.882 0.040 12 56443632 intron variant C/T snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs80278479
rs80278479
TFAP2D
3 0.925 0.040 6 50758466 intron variant C/G snv 3.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs896686
rs896686
TCF4 ; TCF4-AS1
2 1.000 0.040 18 55455800 intron variant T/G snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs11152363
rs11152363
TCF4
2 1.000 0.040 18 55389957 intron variant G/A snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs12457157
rs12457157
TCF4
2 1.000 0.040 18 55629696 intron variant G/A snv 0.41 0.700 1.000 1 2018 2018