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: rs11096957
rs11096957
TLR10
8 0.790 0.160 4 38774870 missense variant T/G snv 0.42 0.41 0.010 1.000 1 2018 2018
dbSNP: rs16872158
rs16872158
NAMPT
2 0.925 0.040 7 106265839 intron variant T/A snv 1.6E-03 0.010 1.000 1 2016 2016
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2006 2006
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs2058540
rs2058540
NAMPT
2 0.925 0.040 7 106276262 non coding transcript exon variant T/C snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs2228611
rs2228611
DNMT1
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.010 1.000 1 2020 2020
dbSNP: rs2228612
rs2228612
DNMT1
12 0.763 0.160 19 10162696 missense variant T/A;C;G snv 0.14 0.010 1.000 1 2020 2020
dbSNP: rs2277831
rs2277831
MICAL3
2 0.925 0.040 22 17816431 intron variant A/G snv 0.33 0.010 < 0.001 1 2012 2012
dbSNP: rs288326
rs288326
FRZB
9 0.807 0.120 2 182838608 missense variant G/A snv 8.2E-02 8.3E-02 0.010 1.000 1 2007 2007
dbSNP: rs3801267
rs3801267
NAMPT
2 0.925 0.040 7 106278476 intron variant A/T snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs4730153
rs4730153
NAMPT
3 0.882 0.120 7 106263704 intron variant A/G snv 0.49 0.010 1.000 1 2016 2016
dbSNP: rs7775
rs7775
FRZB
14 0.732 0.240 2 182834857 missense variant G/A;C;T snv 8.0E-05; 8.0E-02; 5.6E-05 0.010 1.000 1 2007 2007