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: rs2954021
rs2954021
15 1.000 0.040 8 125469835 intron variant A/G snv 0.54 0.800 1.000 2 2011 2018
dbSNP: rs10819937
rs10819937
1 9 101460951 intergenic variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs16856332
rs16856332
1 2 168984064 intron variant T/A;G snv 0.800 1.000 1 2011 2011
dbSNP: rs174601
rs174601
12 0.925 0.080 11 61855668 non coding transcript exon variant C/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs1883415
rs1883415
3 0.925 0.040 6 24491247 intron variant A/C snv 0.34 0.800 1.000 1 2011 2011
dbSNP: rs1976403
rs1976403
1 1 21439960 upstream gene variant A/C snv 0.33 0.800 1.000 1 2011 2011
dbSNP: rs2236653
rs2236653
1 11 126413890 intron variant C/T snv 0.45 0.800 1.000 1 2011 2011
dbSNP: rs281377
rs281377
4 0.925 0.120 19 48703346 synonymous variant C/T snv 0.49 0.42 0.800 1.000 1 2011 2011
dbSNP: rs314253
rs314253
4 17 7188331 downstream gene variant T/C snv 0.37 0.800 1.000 1 2011 2011
dbSNP: rs579459
rs579459
28 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 0.800 1.000 1 2011 2011
dbSNP: rs6984305
rs6984305
1 8 9320758 intron variant A/T snv 0.85 0.800 1.000 1 2011 2011
dbSNP: rs7186908
rs7186908
1 16 72186474 regulatory region variant G/C snv 0.26 0.800 1.000 1 2011 2011
dbSNP: rs7267979
rs7267979
1 20 25317451 intron variant A/G snv 0.58 0.800 1.000 1 2011 2011
dbSNP: rs7923609
rs7923609
1 10 63374062 intron variant A/G snv 0.43 0.800 1.000 1 2011 2011
dbSNP: rs657152
rs657152
ABO
22 0.882 0.200 9 133263862 intron variant A/C;T snv 0.700 1.000 2 2008 2013
dbSNP: rs10091910
rs10091910
1 8 70196313 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs10518765
rs10518765
3 1.000 0.040 15 54388434 intron variant A/C snv 0.16 0.700 1.000 1 2007 2007
dbSNP: rs10761779
rs10761779
3 10 63515167 intron variant A/G snv 0.42 0.700 1.000 1 2008 2008
dbSNP: rs10822161
rs10822161
1 10 63358443 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10893506
rs10893506
5 0.882 0.080 11 126406065 5 prime UTR variant T/A;C snv 6.4E-06; 0.41 0.700 1.000 1 2018 2018
dbSNP: rs11216930
rs11216930
2 1.000 0.040 11 118618067 intron variant A/C snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs1126478
rs1126478
LTF
11 0.763 0.240 3 46459723 missense variant T/C snv 0.41 0.51 0.700 1.000 1 2017 2017
dbSNP: rs11573824
rs11573824
1 8 118947686 intron variant A/C;T snv 0.67 0.700 1.000 1 2018 2018
dbSNP: rs117047270
rs117047270
1 7 107664388 intron variant T/A snv 3.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs117298830
rs117298830
1 11 291521 non coding transcript exon variant A/T snv 3.0E-03 0.700 1.000 1 2018 2018