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: rs10036789
rs10036789 		3 1.000 0.080 5 72400091 regulatory region variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10902094
rs10902094 		1 11 1119225 intergenic variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10975277
rs10975277
RIC1 ; ERMP1
1 9 5774661 3 prime UTR variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs12655443
rs12655443
LOC105378204
2 1.000 0.080 5 142088291 regulatory region variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12889006
rs12889006
ZFP36L1
1 14 68793846 5 prime UTR variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs13099273
rs13099273
LPP
3 1.000 0.080 3 188415730 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1420466
rs1420466 		1 3 169000309 upstream gene variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1684466
rs1684466
LINC01063
2 1.000 0.080 3 196632439 non coding transcript exon variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs16903574
rs16903574
OTULINL
6 0.882 0.120 5 14610200 missense variant C/A;G snv 4.0E-06; 5.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs17670280
rs17670280
LPP
2 1.000 0.080 3 188682451 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1779774
rs1779774
LGSN
1 6 63500578 intergenic variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1800440
rs1800440
CYP1B1
29 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1950897
rs1950897
RAD51B
3 0.925 0.160 14 68293424 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2390314
rs2390314 		3 0.925 0.120 7 20416355 downstream gene variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2486294
rs2486294 		1 10 8245634 regulatory region variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2497318
rs2497318 		6 0.827 0.120 10 92672243 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2811387
rs2811387
EEFSEC
3 3 128296335 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2949669
rs2949669
CD247
1 1 167448647 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs30526
rs30526
SEPTIN8
1 5 132774274 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs34173062
rs34173062
SHARPIN ; MAF1
3 8 144103704 missense variant G/A;C snv 7.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs34712979
rs34712979
NPNT
5 1.000 0.040 4 105897896 splice region variant G/A;T snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs35621564
rs35621564 		2 1.000 0.080 7 20547220 regulatory region variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs3939286
rs3939286 		12 0.776 0.360 9 6210099 regulatory region variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs41283642
rs41283642
TGFBR1
1 9 99153605 3 prime UTR variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4129267
rs4129267
IL6R
13 0.807 0.200 1 154453788 intron variant C/G;T snv 0.700 1.000 1 2019 2019