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: rs10937405
rs10937405
TP63
9 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.840 1.000 5 2010 2014
dbSNP: rs7216064
rs7216064
BPTF
1 1.000 0.040 17 67902693 intron variant G/A snv 0.22 0.810 1.000 4 2012 2019
dbSNP: rs3817963
rs3817963
BTNL2 ; TSBP1-AS1
8 0.776 0.360 6 32400310 intron variant T/C snv 0.25 0.810 1.000 3 2012 2017
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.810 1.000 3 2009 2019
dbSNP: rs12914385
rs12914385
CHRNA3
18 0.790 0.160 15 78606381 intron variant C/A;T snv 0.710 1.000 2 2009 2014
dbSNP: rs2495239
rs2495239
FOXP4-AS1
1 1.000 0.040 6 41522750 intron variant A/G snv 0.84 0.810 1.000 2 2012 2016
dbSNP: rs2853676
rs2853676
TERT
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.020 1.000 2 2014 2015
dbSNP: rs31489
rs31489
CLPTM1L
10 0.763 0.320 5 1342599 intron variant C/A snv 0.41 0.810 1.000 2 2009 2014
dbSNP: rs4236709
rs4236709
NRG1
2 0.925 0.080 8 32552592 intron variant G/A;T snv 0.700 1.000 2 2017 2019
dbSNP: rs7705526
rs7705526
TERT
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 2 2017 2019
dbSNP: rs7741164
rs7741164
FOXP4-AS1
3 0.882 0.080 6 41525674 intron variant G/A snv 6.6E-02 0.700 1.000 2 2016 2019
dbSNP: rs8042374
rs8042374
CHRNA3
10 0.807 0.200 15 78615690 intron variant A/G snv 0.29 0.710 1.000 2 2009 2014
dbSNP: rs1011970
rs1011970
CDKN2B-AS1
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs10213865
rs10213865
IL7R ; LOC105374724
5 0.827 0.120 5 35857748 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10248565
rs10248565
HDAC9
3 1.000 0.040 7 18935100 intron variant T/G snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs1026411
rs1026411
PCAT1 ; LOC105375751
5 0.827 0.080 8 127014165 intron variant G/A;C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs10519198
rs10519198
IREB2
2 0.925 0.080 15 78450412 intron variant C/A;G snv 0.700 1.000 1 2009 2009
dbSNP: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs11168936
rs11168936
TUBA1C
17 0.708 0.280 12 49251457 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs11200014
rs11200014
FGFR2
19 0.695 0.280 10 121575416 intron variant G/A;T snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs114807680
rs114807680
EPHB1
1 1.000 0.040 3 135085649 intron variant G/A snv 9.8E-03 0.700 1.000 1 2018 2018
dbSNP: rs115392158
rs115392158
HLA-B
17 0.708 0.280 6 31347004 intron variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs11571818
rs11571818
BRCA2
17 0.708 0.280 13 32394673 intron variant T/C snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs11610143
rs11610143
ACVR1B
2 0.925 0.080 12 51955287 intron variant C/G snv 0.18 0.700 1.000 1 2016 2016