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: rs10914144
rs10914144
3 1 171980610 intron variant T/C snv 0.78 0.800 1.000 4 2009 2014
dbSNP: rs1172130
rs1172130
2 1 205275825 intron variant G/A snv 0.30 0.800 1.000 2 2011 2014
dbSNP: rs1668873
rs1668873
2 1 205266862 intron variant G/A snv 0.27 0.800 1.000 2 2009 2012
dbSNP: rs1001494
rs1001494
1 1 112567997 intron variant T/C snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs11121012
rs11121012
2 1 7734229 intron variant A/G snv 0.62 0.700 1.000 1 2016 2016
dbSNP: rs11121529
rs11121529
1 1 10211630 5 prime UTR variant C/G snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs1172129
rs1172129
2 1 205275844 intron variant T/A snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs12041331
rs12041331
11 0.776 0.200 1 156899922 intron variant G/A snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs12065624
rs12065624
1 1 207107394 intron variant A/T snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs12096438
rs12096438
2 1 25562931 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1339847
rs1339847
2 1 247875992 missense variant G/A snv 0.12 0.10 0.700 1.000 1 2016 2016
dbSNP: rs1434282
rs1434282
6 1 199041592 non coding transcript exon variant C/T snv 0.76 0.700 1.000 1 2016 2016
dbSNP: rs146377491
rs146377491
1 1 156911263 intron variant CCTC/- delins 0.10 0.700 1.000 1 2016 2016
dbSNP: rs1569419
rs1569419
5 1 3080038 intron variant T/C snv 0.73 0.700 1.000 1 2016 2016
dbSNP: rs157198
rs157198
1 1 28877395 upstream gene variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs17396340
rs17396340
3 1 10226118 intron variant G/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs17853159
rs17853159
2 1 45345193 missense variant G/A snv 5.2E-02 5.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs2038480
rs2038480
2 1 171970501 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2180748
rs2180748
1 1 171977878 intron variant T/A;G snv 0.700 1.000 1 2014 2014
dbSNP: rs2209457
rs2209457
1 1 111190089 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs2278796
rs2278796
1 1 204982081 intron variant C/T snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs236907
rs236907
1 1 171675446 upstream gene variant G/A snv 0.15 0.700 1.000 1 2016 2016
dbSNP: rs2494663
rs2494663
1 1 154119580 intron variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2789422
rs2789422
1 1 159922298 intron variant G/A snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs3123543
rs3123543
13 1 212617344 intron variant T/A;C snv 0.700 1.000 1 2019 2019