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: rs11008347
rs11008347
MALRD1
1 1.000 0.080 10 19072094 intron variant C/G snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs11168936
rs11168936
TUBA1C
17 0.708 0.280 12 49251457 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs11200014
rs11200014
FGFR2
19 0.695 0.280 10 121575416 intron variant G/A;T snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs114002231
rs114002231 		1 1.000 0.080 6 31459618 intron variant G/C snv 0.700 1.000 1 2017 2017
dbSNP: rs114385935
rs114385935
LINC00533 ; LOC105374996
1 1.000 0.080 6 28651576 upstream gene variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs114393147
rs114393147 		1 1.000 0.080 6 33157965 downstream gene variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs114601353
rs114601353 		1 1.000 0.080 6 30389517 intergenic variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs114828403
rs114828403 		1 1.000 0.080 6 32809144 downstream gene variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs115100928
rs115100928 		1 1.000 0.080 6 32419655 intergenic variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs11514963
rs11514963
MKLN1
1 1.000 0.080 7 131247904 intron variant C/T snv 0.81 0.700 1.000 1 2017 2017
dbSNP: rs115287935
rs115287935
ZNF311
1 1.000 0.080 6 29006488 upstream gene variant G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs115392158
rs115392158
HLA-B
17 0.708 0.280 6 31347004 intron variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs115613607
rs115613607 		1 1.000 0.080 6 32413503 regulatory region variant G/C snv 0.700 1.000 1 2017 2017
dbSNP: rs115666025
rs115666025
MUC22
1 1.000 0.080 6 31009903 upstream gene variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs11571818
rs11571818
BRCA2
17 0.708 0.280 13 32394673 intron variant T/C snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs115729734
rs115729734
HLA-A
1 1.000 0.080 6 29931238 upstream gene variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs115819854
rs115819854 		1 1.000 0.080 6 32683864 intergenic variant G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs115870917
rs115870917 		1 1.000 0.080 6 29639324 upstream gene variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs11610143
rs11610143
ACVR1B
2 0.925 0.080 12 51955287 intron variant C/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs116165775
rs116165775
ETAA1
1 1.000 0.080 2 67400580 3 prime UTR variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs116260619
rs116260619 		1 1.000 0.080 6 30479897 intergenic variant A/C snv 0.700 1.000 1 2017 2017
dbSNP: rs116295105
rs116295105
PPP1R18
1 1.000 0.080 6 30685004 missense variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs116298963
rs116298963 		1 1.000 0.080 6 32911694 intergenic variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs116381494
rs116381494 		1 1.000 0.080 6 28900717 downstream gene variant C/G snv 0.700 1.000 1 2017 2017