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: rs11652075
rs11652075
SGSH ; CARD14
3 0.882 0.040 17 80205094 missense variant C/T snv 0.41 0.40 0.840 1.000 5 2012 2016
dbSNP: rs11795343
rs11795343
DDX58
1 1.000 0.040 9 32523739 intron variant T/C snv 0.41 0.800 1.000 3 2012 2015
dbSNP: rs12580100
rs12580100 		1 1.000 0.040 12 56045425 upstream gene variant A/G snv 0.14 0.800 1.000 3 2010 2015
dbSNP: rs1265181
rs1265181
PSORS1C3
2 0.925 0.040 6 31188008 intergenic variant G/C snv 0.15 0.710 1.000 3 2009 2019
dbSNP: rs17716942
rs17716942
KCNH7
2 0.925 0.040 2 162404181 intron variant T/C snv 9.6E-02 0.800 1.000 3 2010 2015
dbSNP: rs240993
rs240993
REV3L ; MFSD4B
1 1.000 0.040 6 111352511 intron variant T/A;C snv 0.800 1.000 3 2010 2015
dbSNP: rs1020760
rs1020760
NFKB1
2 0.925 0.040 4 102593288 non coding transcript exon variant C/G snv 0.42 0.020 1.000 2 2014 2016
dbSNP: rs10782001
rs10782001
FBXL19
2 1.000 0.040 16 30931304 intron variant G/A snv 0.53 0.800 1.000 2 2010 2015
dbSNP: rs10794648
rs10794648 		1 1.000 0.040 1 24191716 upstream gene variant T/C snv 0.68 0.700 1.000 2 2015 2015
dbSNP: rs12586317
rs12586317
PRORP
1 1.000 0.040 14 35212966 intron variant T/C snv 0.19 0.800 1.000 2 2010 2015
dbSNP: rs12884468
rs12884468 		2 0.925 0.040 14 35383280 downstream gene variant T/C snv 0.47 0.700 1.000 2 2015 2015
dbSNP: rs1576
rs1576
CCHCR1
1 1.000 0.040 6 31142614 missense variant G/A;C snv 4.0E-06; 0.28 0.710 1.000 2 2011 2019
dbSNP: rs2233278
rs2233278
TNIP1
2 0.925 0.040 5 151087628 5 prime UTR variant G/C;T snv 4.8E-02 0.800 1.000 2 2012 2015
dbSNP: rs2700987
rs2700987
ELMO1
1 1.000 0.040 7 37346633 intron variant C/A snv 0.60 0.800 1.000 2 2012 2015
dbSNP: rs3751385
rs3751385
GJB2
1 1.000 0.040 13 20188817 3 prime UTR variant A/G snv 0.74 0.710 1.000 2 2010 2012
dbSNP: rs465969
rs465969
REV3L ; MFSD4B
1 1.000 0.040 6 111334327 intron variant G/A snv 8.7E-02 0.800 1.000 2 2010 2015
dbSNP: rs643177
rs643177
TNFAIP3
1 1.000 0.040 6 137874556 intron variant T/C snv 0.70 0.700 1.000 2 2015 2015
dbSNP: rs7709212
rs7709212
LOC285626
2 0.925 0.040 5 159337169 intron variant T/C snv 0.34 0.710 1.000 2 2015 2017
dbSNP: rs892085
rs892085
QTRT1
2 0.925 0.040 19 10707416 intron variant G/A snv 0.57 0.59 0.800 1.000 2 2012 2015
dbSNP: rs9304742
rs9304742
ZNF816-ZNF321P
1 1.000 0.040 19 52948038 intron variant T/C snv 0.42 0.800 1.000 2 2010 2015
dbSNP: rs9504361
rs9504361
EXOC2
3 1.000 0.040 6 577820 intron variant A/G snv 0.40 0.800 1.000 2 2012 2015
dbSNP: rs1002212321
rs1002212321
RIMS2
1 1.000 0.040 8 103931366 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs10088247
rs10088247
CSMD1
1 1.000 0.040 8 3826677 intron variant C/T snv 0.76 0.700 1.000 1 2010 2010
dbSNP: rs1008953
rs1008953 		1 1.000 0.040 20 45352086 upstream gene variant T/C snv 0.79 0.800 1.000 1 2010 2010
dbSNP: rs10180391
rs10180391
GNLY
1 1.000 0.040 2 85699222 downstream gene variant C/T snv 0.31 0.010 < 0.001 1 2019 2019