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: rs28763958
rs28763958
DSP
3 0.882 0.080 6 7558186 missense variant A/G snv 6.4E-05 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs3212247
rs3212247
RIPK3
2 0.925 0.040 14 24340589 upstream gene variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2018 2018
dbSNP: rs4420638
rs4420638
APOC1
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs4803750
rs4803750
BCL3
22 0.807 0.240 19 44744370 upstream gene variant A/G snv 7.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs562338
rs562338 		21 0.807 0.160 2 21065449 intergenic variant A/G snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs6787362
rs6787362
FRMD4B
2 0.925 0.040 3 69178228 intron variant A/G snv 9.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs7632505
rs7632505
SEMA5B
17 0.827 0.120 3 123019460 intron variant A/G snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs1799998
rs1799998
CYP11B2
14 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 0.020 1.000 2 2013 2020
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs12638540
rs12638540
CMTM7
1 1.000 0.040 3 32447042 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs1728918
rs1728918 		19 0.827 0.160 2 27412596 upstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1800624
rs1800624
AGER ; PBX2
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs267607499
rs267607499
DES
4 0.851 0.160 2 219418809 missense variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs4506565
rs4506565
TCF7L2
22 0.790 0.280 10 112996282 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs460976
rs460976 		7 0.851 0.120 21 41463567 downstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs5068
rs5068
CLCN6 ; NPPA ; NPPA-AS1
13 0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs57045855
rs57045855
LMNA
6 0.882 0.040 1 156134464 missense variant A/G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs7115242
rs7115242
SIK3
16 0.851 0.120 11 117037567 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1028728
rs1028728
POSTN
3 0.925 0.040 13 37599679 upstream gene variant A/T snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs1700575
rs1700575
LOC105374647
3 1.000 0.040 5 8543925 intron variant A/T snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2010 2010
dbSNP: rs2210327
rs2210327
ADAMTSL1
1 1.000 0.040 9 18109237 intron variant A/T snv 3.4E-02 0.800 1.000 1 2010 2010
dbSNP: rs2230345
rs2230345
GRK5
6 0.807 0.160 10 119326585 missense variant A/T snv 3.8E-02 9.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs2866611
rs2866611 		16 0.851 0.120 20 41322165 upstream gene variant A/T snv 0.58 0.700 1.000 1 2016 2016