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: rs1120638
rs1120638 		1 1.000 0.040 Y 3649707 intergenic variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1048118
rs1048118
CFP
1 1.000 0.040 X 47624401 synonymous variant G/A snv 0.22 0.23 0.010 < 0.001 1 2010 2010
dbSNP: rs10521496
rs10521496
DIAPH2
3 0.882 0.120 X 97043550 intron variant G/A snv 0.41 0.010 1.000 1 2007 2007
dbSNP: rs1155974
rs1155974
TNMD
2 0.925 0.120 X 100598284 intron variant C/T snv 0.34 0.010 1.000 1 2009 2009
dbSNP: rs179008
rs179008
TLR7
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.010 1.000 1 2008 2008
dbSNP: rs2073163
rs2073163
TNMD
2 0.925 0.120 X 100594054 intron variant T/C snv 0.41 0.39 0.010 1.000 1 2009 2009
dbSNP: rs7890586
rs7890586 		1 1.000 0.040 X 100582827 upstream gene variant G/A snv 0.23 0.010 1.000 1 2009 2009
dbSNP: rs9621532
rs9621532
SYN3
4 0.851 0.040 22 32688525 intron variant A/C snv 5.8E-02 0.730 1.000 6 2010 2019
dbSNP: rs200483076
rs200483076
SYN3
1 1.000 0.040 22 32688525 intron variant A/C snv 0.700 1.000 3 2010 2011
dbSNP: rs8135665
rs8135665
SLC16A8 ; LOC105373027
4 0.851 0.040 22 38080269 intron variant C/T snv 0.24 0.810 1.000 3 2013 2019
dbSNP: rs5749482
rs5749482
SYN3 ; LOC105373002
3 0.925 0.040 22 32663679 intron variant G/C snv 0.26 0.710 1.000 2 2013 2019
dbSNP: rs2071747
rs2071747
HMOX1
4 0.851 0.120 22 35381192 missense variant G/C snv 4.3E-02 4.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs5754227
rs5754227
SYN3
4 0.851 0.040 22 32709831 intron variant T/C snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs769112655
rs769112655
P2RX6
1 1.000 0.040 22 21025893 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1195312059
rs1195312059
ERG
3 0.882 0.040 21 38403680 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2839127
rs2839127
FTCD
1 1.000 0.040 21 46153636 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs57137919
rs57137919
ABCG1 ; LOC105372814
9 0.776 0.160 21 42218908 intron variant G/A snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs1064039
rs1064039
CST3
6 0.827 0.200 20 23637790 missense variant C/G;T snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs142450006
rs142450006 		4 0.851 0.040 20 45986353 regulatory region variant TTCT/-;TTCTTTCT delins 2.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs148957473
rs148957473
VSX1
5 0.827 0.160 20 25077762 missense variant T/C;G snv 2.7E-03 0.010 1.000 1 2006 2006
dbSNP: rs151214675
rs151214675
RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.040 20 63661882 missense variant G/A snv 1.6E-04 1.9E-04 0.010 1.000 1 2019 2019
dbSNP: rs201459901
rs201459901 		4 0.851 0.040 20 58078668 regulatory region variant -/A delins 0.21 0.700 1.000 1 2016 2016
dbSNP: rs948987111
rs948987111
THBD
1 1.000 0.040 20 23049204 missense variant G/C snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2230199
rs2230199
C3
10 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.900 0.852 27 2009 2020