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: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2015 2016
dbSNP: rs11190870
rs11190870 		6 0.827 0.200 10 101219450 intergenic variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs11658743
rs11658743
TIMP2 ; CEP295NL
1 1.000 0.040 17 78877679 intron variant T/C snv 0.17 0.010 < 0.001 1 2019 2019
dbSNP: rs1256049
rs1256049
ESR2
32 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs1256120
rs1256120
ESR2
3 0.882 0.200 14 64338283 non coding transcript exon variant A/G snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs146984380
rs146984380
POC5
1 1.000 0.040 5 75685328 missense variant G/A snv 7.7E-03 6.8E-03 0.010 1.000 1 2015 2015
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 < 0.001 1 2013 2013
dbSNP: rs2277700
rs2277700
TIMP2
1 1.000 0.040 17 78870629 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2377005
rs2377005
TIMP2 ; CEP295NL
1 1.000 0.040 17 78874211 intron variant A/G snv 0.93 0.010 < 0.001 1 2019 2019
dbSNP: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs34678567
rs34678567
POC5
1 1.000 0.040 5 75685278 missense variant C/A;T snv 8.0E-06; 1.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs4789934
rs4789934
TIMP2
1 1.000 0.040 17 78915454 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs6137473
rs6137473 		5 0.827 0.280 20 21904055 intergenic variant G/A snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs763910203
rs763910203
POC5
1 1.000 0.040 5 75685251 missense variant C/G snv 6.4E-05 1.0E-04 0.010 1.000 1 2015 2015
dbSNP: rs7843033
rs7843033
CHD7
1 1.000 0.040 8 60759956 intron variant A/C;T snv 0.77 0.010 1.000 1 2008 2008
dbSNP: rs8179090
rs8179090
TIMP2
12 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs934099
rs934099
INSR
1 1.000 0.040 19 7264916 intron variant C/T snv 9.7E-02 0.010 1.000 1 2013 2013