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: rs1163085
rs1163085
INA
1 1.000 0.040 10 103279484 intron variant G/A snv 0.64 0.700 1.000 1 2018 2018
dbSNP: rs11663050
rs11663050
1 1.000 0.040 18 37621190 intron variant T/G snv 0.51 0.700 1.000 1 2018 2018
dbSNP: rs1202184
rs1202184
7 0.851 0.120 7 87584585 intron variant C/T snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs12145083
rs12145083
1 1.000 0.040 1 197853864 intergenic variant T/A snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs12188167
rs12188167
1 1.000 0.040 5 88370488 intron variant C/G snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs12260436
rs12260436
1 1.000 0.040 10 102981357 intron variant A/C snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs12484971
rs12484971
1 1.000 0.040 22 41043300 upstream gene variant A/T snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs1248860
rs1248860
2 1.000 0.040 3 84966628 intron variant G/A snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs12765002
rs12765002
2 1.000 0.040 10 102875591 intron variant C/T snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs1276624859
rs1276624859
3 0.925 0.080 8 38057134 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1277240795
rs1277240795
OGA
2 1.000 0.040 10 101791382 missense variant G/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs12923795
rs12923795
1 1.000 0.040 16 7612705 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs12938031
rs12938031
6 0.851 0.160 17 45777136 intron variant A/G snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs12957516
rs12957516
1 1.000 0.040 18 37635554 intron variant C/T snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs1296171
rs1296171
1 1.000 0.040 1 226871905 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs13262595
rs13262595
3 1.000 0.040 8 142235609 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs13282237
rs13282237
1 1.000 0.040 8 142244830 intron variant A/G snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs1330745
rs1330745
1 1.000 0.040 13 58585815 intergenic variant A/C snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs13324323
rs13324323
1 1.000 0.040 3 166989488 intergenic variant C/T snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs13328187
rs13328187
1 1.000 0.040 5 88569547 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1368748
rs1368748
1 1.000 0.040 3 85363180 intron variant A/G snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs1401663578
rs1401663578
ACE
4 0.882 0.120 17 63483037 missense variant A/G snv 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs1426371
rs1426371
3 1.000 0.040 12 108236003 intron variant G/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs1427041
rs1427041
1 1.000 0.040 18 37628357 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1481318368
rs1481318368
TH
10 0.827 0.120 11 2169802 missense variant C/T snv 0.010 1.000 1 2013 2013