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: rs11036238
rs11036238
2 1.000 0.040 11 5204405 upstream gene variant G/C snv 0.21 0.800 1.000 1 2009 2009
dbSNP: rs12788102
rs12788102
2 1.000 0.040 11 4769345 synonymous variant A/G snv 9.5E-02 9.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs1469170
rs1469170
1 1.000 0.040 11 110870290 intergenic variant A/G snv 0.55 0.800 1.000 1 2013 2013
dbSNP: rs372091
rs372091
1 1.000 0.040 11 5496926 intron variant A/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs6503319
rs6503319
1 1.000 0.040 17 10670842 downstream gene variant C/T snv 0.31 0.800 1.000 1 2009 2009
dbSNP: rs6755404
rs6755404
1 1.000 0.040 2 184932501 intron variant A/C snv 0.82 0.800 1.000 1 2013 2013
dbSNP: rs8176719
rs8176719
ABO
6 0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35 0.800 1.000 1 2012 2012
dbSNP: rs8176722
rs8176722
ABO
3 1.000 0.040 9 133257367 intron variant C/A snv 0.13 0.12 0.800 1.000 1 2013 2013
dbSNP: rs9940464
rs9940464
1 1.000 0.040 16 83327170 intron variant T/C snv 0.39 0.800 1.000 1 2013 2013
dbSNP: rs10192428
rs10192428
1 1.000 0.040 2 231014025 3 prime UTR variant G/A snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs11213630
rs11213630
1 1.000 0.040 11 110868831 intergenic variant A/G snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs11335470
rs11335470
1 1.000 0.040 12 126753075 intron variant T/- delins 0.94 0.700 1.000 1 2018 2018
dbSNP: rs113449872
rs113449872
1 1.000 0.040 5 43909241 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs114169033
rs114169033
1 1.000 0.040 4 189796550 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12405994
rs12405994
1 1.000 0.040 1 75969735 intron variant A/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs12789492
rs12789492
2 1.000 0.040 11 4772889 intron variant C/T snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs12801757
rs12801757
1 1.000 0.040 11 4785824 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs12806476
rs12806476
1 1.000 0.040 11 4785642 intron variant T/G snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs12808215
rs12808215
1 1.000 0.040 11 4786742 intron variant A/G snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs1417402
rs1417402
1 1.000 0.040 1 75971511 intron variant G/A snv 7.1E-02 0.700 1.000 1 2009 2009
dbSNP: rs144312179
rs144312179
1 1.000 0.040 13 107575665 intron variant A/G snv 7.4E-03 0.700 1.000 1 2018 2018
dbSNP: rs149085856
rs149085856
1 1.000 0.040 17 12496210 intergenic variant C/-;CC;CCC delins 0.700 1.000 1 2018 2018
dbSNP: rs1505209
rs1505209
1 1.000 0.040 11 4571047 downstream gene variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1543061
rs1543061
1 1.000 0.040 2 231013781 intron variant C/T snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs1594812
rs1594812
1 1.000 0.040 11 4777979 intron variant T/G snv 9.6E-02 0.700 1.000 1 2013 2013