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: rs11213630
rs11213630
1 1.000 0.040 11 110868831 intergenic variant A/G snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs113449872
rs113449872
1 1.000 0.040 5 43909241 intergenic variant G/A;T snv 0.700 1.000 1 2018 2018
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: 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: rs17624383
rs17624383
1 1.000 0.040 7 53609144 intergenic variant G/C snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs17728971
rs17728971
1 1.000 0.040 14 45998628 intron variant A/G snv 0.39 0.700 1.000 1 2009 2009
dbSNP: rs186873296
rs186873296
1 1.000 0.040 4 143781321 intron variant A/G snv 2.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs316414
rs316414
1 1.000 0.040 5 43004178 downstream gene variant A/G snv 0.67 0.700 1.000 1 2009 2009
dbSNP: rs61042368
rs61042368
2 0.925 0.040 X 154527122 downstream gene variant G/A snv 3.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs6572335
rs6572335
1 1.000 0.040 14 45965382 intron variant A/G snv 0.38 0.700 1.000 1 2009 2009
dbSNP: rs6588252
rs6588252
1 1.000 0.040 1 67273345 upstream gene variant G/T snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs6682413
rs6682413
1 1.000 0.040 1 67265931 downstream gene variant G/A snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs73832816
rs73832816
1 1.000 0.040 4 99508600 upstream gene variant G/A snv 1.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs7855466
rs7855466
3 0.925 0.080 9 133245916 downstream gene variant C/T snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2017 2017
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs77641731
rs77641731
ABO
3 1.000 0.040 9 133257521 missense variant T/C snv 0.700 1.000 1 2012 2012
dbSNP: rs8176672
rs8176672
ABO
2 1.000 0.040 9 133266772 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs8176693
rs8176693
ABO
9 0.851 0.160 9 133262254 intron variant C/T snv 9.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs8176703
rs8176703
ABO
1 1.000 0.040 9 133260460 intron variant G/T snv 0.700 1.000 1 2012 2012
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