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: rs12387999
rs12387999
ZNF630
1 1.000 0.040 X 48035670 intron variant G/A snv 5.0E-02 0.700 1.000 1 2011 2011
dbSNP: rs1250563
rs1250563
ZMIZ1
14 0.724 0.240 10 79287626 intron variant G/C snv 0.24 0.700 1.000 1 2015 2015
dbSNP: rs4246905
rs4246905
TNFSF15
16 0.716 0.400 9 114790969 missense variant T/A;C snv 0.76 0.700 1.000 1 2015 2015
dbSNP: rs34557412
rs34557412
TNFRSF13B
15 0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03 0.100 0.900 10 2005 2018
dbSNP: rs72553883
rs72553883
TNFRSF13B
5 0.851 0.080 17 16940415 missense variant G/A;T snv 2.8E-05; 5.3E-03 0.050 0.800 5 2005 2015
dbSNP: rs35062843
rs35062843
TNFRSF13B
1 1.000 0.040 17 16948892 synonymous variant A/C snv 4.2E-02 3.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs751216929
rs751216929
TNFRSF13B
1 1.000 0.040 17 16940442 missense variant C/T snv 1.8E-04 2.0E-04 0.010 1.000 1 2009 2009
dbSNP: rs11095197
rs11095197
TAB3
1 1.000 0.040 X 30958830 intron variant C/T snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs1689510
rs1689510
SUOX
16 0.724 0.240 12 56002984 non coding transcript exon variant G/C snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs5918500
rs5918500
SRPX
1 1.000 0.040 X 38209996 intron variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs7815950
rs7815950
SNX31
1 1.000 0.040 8 100646940 intron variant A/G snv 6.6E-02 0.700 1.000 1 2011 2011
dbSNP: rs72743477
rs72743477
SMAD3
14 0.724 0.240 15 67171953 intron variant A/G snv 0.17 0.700 1.000 1 2015 2015
dbSNP: rs375099
rs375099
RANBP2
1 1.000 0.040 2 109043821 intergenic variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs5925651
rs5925651
PTCHD1-AS
1 1.000 0.040 X 22651114 intron variant C/A snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs6679677
rs6679677
PHTF1
26 0.653 0.320 1 113761186 upstream gene variant C/A snv 6.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs3117426
rs3117426
OR14J1 ; LOC105375005
2 0.925 0.080 6 29304235 intron variant C/T snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs2066844
rs2066844
NOD2
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs117372389
rs117372389
NKD1
14 0.724 0.240 16 50634166 3 prime UTR variant G/T snv 1.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs748910652
rs748910652
NFKB2
1 1.000 0.040 10 102400759 stop gained C/T snv 8.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs2065970
rs2065970
MAN1C1
1 1.000 0.040 1 25725032 intron variant A/G snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs7042370
rs7042370
LURAP1L ; LURAP1L-AS1
14 0.724 0.240 9 12785074 intron variant T/C snv 0.58 0.700 1.000 1 2015 2015
dbSNP: rs17466626
rs17466626
LRRK2 ; LOC105369736
14 0.724 0.240 12 40366829 non coding transcript exon variant A/G snv 1.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs16910534
rs16910534
LOC105378313
1 1.000 0.040 10 57337568 intergenic variant C/T snv 3.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs2948491
rs2948491
LOC105373182
1 1.000 0.040 X 40321436 intergenic variant C/T snv 8.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs114846446
rs114846446
LINC01250
14 0.724 0.240 2 2944140 intron variant G/A snv 9.5E-03 0.700 1.000 1 2015 2015