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: rs964184
rs964184
ZPR1
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 1 2016 2016
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2016 2016
dbSNP: rs11065987
rs11065987 		17 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs13331259
rs13331259
FAM234A
14 16 249924 intron variant A/G snv 3.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs7775698
rs7775698
HBS1L
14 1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs112505971
rs112505971
ANKRD26
13 10 27068541 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2853961
rs2853961 		13 6 31264212 downstream gene variant G/A snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs3123543
rs3123543
ATF3
13 1 212617344 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs3840870
rs3840870
COL1A1
13 17 50184820 3 prime UTR variant -/CTTG delins 0.700 1.000 1 2019 2019
dbSNP: rs4837892
rs4837892
TTLL11
13 9 121826025 intron variant G/T snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs603424
rs603424
PKD2L1
13 1.000 0.080 10 100315722 intron variant G/A snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs7296503
rs7296503
PDZRN4
13 12 41306962 intron variant C/T snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs76792961
rs76792961
FAM234A
13 16 243594 intron variant C/T snv 7.3E-03 0.700 1.000 1 2019 2019
dbSNP: rs9917425
rs9917425
OTOR
13 20 16755400 intron variant G/T snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs11066301
rs11066301
PTPN11
12 0.827 0.200 12 112433568 intron variant A/G snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs35188965
rs35188965
SLC12A7
12 5 1104823 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs3811444
rs3811444
TRIM58
12 1 247876149 missense variant C/T snv 0.31 0.26 0.700 1.000 1 2016 2016
dbSNP: rs12041331
rs12041331
PEAR1
11 0.776 0.200 1 156899922 intron variant G/A snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs9494145
rs9494145 		11 0.925 0.080 6 135111414 intergenic variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs17758695
rs17758695
BCL2
10 18 63253621 intron variant C/T snv 2.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs739496
rs739496
ATXN2 ; SH2B3
10 0.790 0.160 12 111449855 3 prime UTR variant A/G snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs150813342
rs150813342
GFI1B
9 9 132989126 synonymous variant C/T snv 4.1E-03 4.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs35979828
rs35979828
NFE2
9 12 54292096 intron variant C/T snv 5.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs385893
rs385893 		9 0.925 0.080 9 4763176 downstream gene variant T/C snv 0.44 0.700 1.000 1 2012 2012