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: rs12285347
rs12285347
MMP7
1 11 102525876 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11067228
rs11067228 		3 0.925 0.080 12 114656455 downstream gene variant A/G snv 0.37 0.800 1.000 2 2010 2017
dbSNP: rs6478343
rs6478343 		1 9 117970471 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs4548546
rs4548546
WDR11
3 1.000 0.040 10 120870067 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs59482735
rs59482735
PHF19
1 9 120881148 intron variant -/A;AA;AATA;AATTG ins 1.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs200367988
rs200367988
LOC105378519
1 10 120915337 intergenic variant G/A snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs10788160
rs10788160 		2 10 121274035 intergenic variant G/A snv 0.19 0.800 1.000 1 2010 2010
dbSNP: rs11199879
rs11199879 		3 1.000 0.040 10 121285698 regulatory region variant T/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs10886902
rs10886902 		1 10 121289750 regulatory region variant T/C snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs10749415
rs10749415 		1 10 121425789 intergenic variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs4752569
rs4752569
FGFR2
1 10 121572176 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs17464492
rs17464492
POU5F1B ; CASC8 ; PCAT1 ; CASC21
1 8 127330621 intron variant A/G snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.700 1.000 1 2017 2017
dbSNP: rs2853677
rs2853677
TERT
19 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.700 1.000 1 2018 2018
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.700 1.000 1 2010 2010
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.800 1.000 1 2010 2010
dbSNP: rs381949
rs381949
CLPTM1L
3 1.000 0.040 5 1322353 intron variant G/A snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs37004
rs37004
LINC01511
1 5 1356569 intron variant C/T snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs1991431
rs1991431
ZBTB38
4 3 141414608 intron variant G/A snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs6488679
rs6488679
ATF7IP
1 12 14368442 intron variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs7312042
rs7312042
ATF7IP
1 12 14380556 intron variant G/A snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs11055956
rs11055956
ATF7IP
1 12 14381492 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs10734875
rs10734875
ATF7IP
1 12 14389607 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs7954210
rs7954210
ATF7IP
1 12 14395380 intron variant A/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs7970587
rs7970587
ATF7IP
1 12 14422525 intron variant A/G;T snv 0.700 1.000 1 2013 2013