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: rs12722547
rs12722547
IL2RA
1 10 6030130 intron variant G/C snv 7.8E-03 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: rs159963
rs159963
RERE
3 1.000 0.040 1 8444361 intron variant C/A snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs1655558
rs1655558
ITPKA
3 0.925 0.080 15 41495387 intron variant T/G snv 0.66 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: rs1689510
rs1689510
SUOX
16 0.724 0.240 12 56002984 non coding transcript exon variant G/C snv 0.25 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: rs174535
rs174535
MYRF ; TMEM258
19 0.776 0.280 11 61783884 missense variant T/A;C;G snv 0.38 0.32 0.700 1.000 1 2019 2019
dbSNP: rs17454584
rs17454584 		6 0.851 0.080 4 122432277 downstream gene variant A/G snv 0.17 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: rs1837253
rs1837253 		10 0.790 0.240 5 111066174 upstream gene variant T/C snv 0.72 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: rs2197415
rs2197415 		2 10 9020893 intergenic variant T/G snv 0.66 0.700 1.000 1 2019 2019
dbSNP: rs2255088
rs2255088
PRKCQ-AS1
2 1.000 0.040 10 6583416 intron variant T/C snv 0.39 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: rs3122929
rs3122929
STAT6
4 0.882 0.080 12 57115319 intron variant C/T snv 0.33 0.700 1.000 1 2019 2019