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: rs12803321
rs12803321
PHLDB1
2 1.000 0.040 11 118609400 intron variant G/C;T snv 0.700 1.000 3 2015 2018
dbSNP: rs1346786
rs1346786
EFEMP1
1 1.000 0.040 2 55881198 intron variant C/T snv 0.36 0.030 1.000 3 2015 2017
dbSNP: rs10131
rs10131
LIG4
3 1.000 0.040 13 108207498 3 prime UTR variant C/T snv 0.12 0.020 1.000 2 2015 2016
dbSNP: rs11706832
rs11706832
LRIG1
2 1.000 0.040 3 66452557 intron variant A/C;G snv 0.710 1.000 2 2017 2018
dbSNP: rs16904140
rs16904140
CCDC26
1 1.000 0.040 8 129653397 intron variant G/A snv 0.19 0.700 1.000 2 2009 2011
dbSNP: rs2065134
rs2065134
SLC7A7
1 1.000 0.040 14 22788980 intron variant T/C;G snv 0.020 0.500 2 2013 2017
dbSNP: rs494560
rs494560
PHLDB1
1 1.000 0.040 11 118650844 non coding transcript exon variant A/G snv 0.57 0.710 1.000 2 2011 2012
dbSNP: rs10131032
rs10131032
AKAP6
2 1.000 0.040 14 32780875 intron variant G/A snv 9.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs1048771
rs1048771
RAD54L ; LRRC41
1 1.000 0.040 1 46278228 synonymous variant C/A;T snv 4.0E-06; 0.15 0.010 1.000 1 2016 2016
dbSNP: rs10494090
rs10494090
SLC25A24
2 1.000 0.040 1 108150714 intron variant A/C;G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1058319
rs1058319
SLC2A4RG
2 1.000 0.040 20 63743036 3 prime UTR variant C/A;T snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs10764901
rs10764901
MGMT ; LOC105378560
1 1.000 0.040 10 129716598 intron variant A/G snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs10842893
rs10842893
STK38L
1 1.000 0.040 12 27269953 intron variant C/T snv 7.1E-02 0.710 1.000 1 2019 2019
dbSNP: rs10924303
rs10924303
KIF26B ; LOC105373265
2 1.000 0.040 1 245683732 intron variant C/T snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs10924690
rs10924690
SMYD3
2 1.000 0.040 1 246320481 intron variant G/A snv 0.20 0.700 1.000 1 2009 2009
dbSNP: rs11163687
rs11163687
LOC107985037
2 1.000 0.040 1 83199436 intergenic variant A/G snv 9.6E-02 0.700 1.000 1 2009 2009
dbSNP: rs11166389
rs11166389
SLC35A3 ; RNU6-1318P
2 1.000 0.040 1 100000723 non coding transcript exon variant G/A snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs111696067
rs111696067
GOLGA3
2 1.000 0.040 12 132799954 intron variant T/C snv 5.3E-04 0.700 1.000 1 2015 2015
dbSNP: rs11216930
rs11216930
PHLDB1
2 1.000 0.040 11 118618067 intron variant A/C snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs11216943
rs11216943 		1 1.000 0.040 11 118685689 downstream gene variant G/A snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs1131239
rs1131239
ANXA5
1 1.000 0.040 4 121696590 5 prime UTR variant G/A;C;T snv 0.12 0.17 0.010 1.000 1 2019 2019
dbSNP: rs115303435
rs115303435
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.040 20 63694806 missense variant G/A snv 3.2E-03 1.1E-03 0.010 1.000 1 2018 2018
dbSNP: rs11583706
rs11583706
LOC105373220
2 1.000 0.040 1 238358337 intron variant G/T snv 0.17 0.700 1.000 1 2009 2009
dbSNP: rs11598018
rs11598018
STN1
2 1.000 0.040 10 103901557 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11599775
rs11599775
VTI1A
2 1.000 0.040 10 112699938 intron variant G/A snv 0.27 0.700 1.000 1 2017 2017