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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs2745557
rs2745557
PTGS2 ; PACERR
6 0.807 0.200 1 186680089 intron variant A/G snv 0.83 0.010 1.000 1 2016 2016
dbSNP: rs523349
rs523349
SRD5A2
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.080 0.875 8 2002 2017
dbSNP: rs9282858
rs9282858
SRD5A2
16 0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02 0.060 0.667 6 2002 2017
dbSNP: rs12470143
rs12470143
SRD5A2
2 0.925 0.080 2 31538488 intron variant C/T snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs12621278
rs12621278
ITGA6
7 0.790 0.280 2 172446825 intron variant A/G snv 4.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs2556378
rs2556378
BCL11A
3 1.000 0.040 2 60535367 3 prime UTR variant T/G snv 0.81 0.700 1.000 1 2018 2018
dbSNP: rs9332964
rs9332964
SRD5A2
10 0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 0.010 1.000 1 2005 2005
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.020 1.000 2 2013 2019
dbSNP: rs333
rs333
CCR5 ; CCR5AS
23 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs1126647
rs1126647
CXCL8
8 0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs1902023
rs1902023
UGT2B15
4 0.882 0.080 4 68670366 missense variant A/C snv 0.51 0.53 0.010 1.000 1 2017 2017
dbSNP: rs2227306
rs2227306
CXCL8
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs36067435
rs36067435
ELOVL6
1 1.000 0.040 4 110180390 intron variant -/TTAT delins 0.700 1.000 1 2019 2019
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs72551387
rs72551387
UGT2B17
3 0.882 0.080 4 68568232 missense variant C/A snv 5.7E-03 5.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs10035432
rs10035432
C5orf46
1 1.000 0.040 5 147855193 upstream gene variant G/A snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs10054105
rs10054105
STARD4-AS1
3 0.925 0.080 5 111573636 intron variant T/G snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs115336889
rs115336889
ROPN1L
1 1.000 0.040 5 10454257 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs12653946
rs12653946
CTD-2194D22.4
5 0.882 0.080 5 1895715 intron variant C/T snv 0.43 0.010 1.000 1 2013 2013
dbSNP: rs16902947
rs16902947 		1 1.000 0.040 5 36308995 intergenic variant A/G snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs2011077
rs2011077
FGFR4
8 0.807 0.080 5 177094455 intron variant C/T snv 0.19 0.010 1.000 1 2008 2008
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2013 2013
dbSNP: rs2853677
rs2853677
TERT
19 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.700 1.000 1 2018 2018
dbSNP: rs351855
rs351855
FGFR4
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.010 1.000 1 2008 2008