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: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.800 1.000 2 2013 2017
dbSNP: rs612169
rs612169
ABO
10 9 133268030 intron variant G/A snv 0.800 1.000 2 2013 2017
dbSNP: rs687289
rs687289
ABO
15 1.000 0.120 9 133261703 intron variant A/G snv 0.800 1.000 2 2013 2019
dbSNP: rs687621
rs687621
ABO
18 0.851 0.240 9 133261662 intron variant G/A;C snv 0.800 1.000 2 2010 2013
dbSNP: rs12518614
rs12518614
LINC02145
1 5 6324180 intron variant A/G snv 4.3E-02 0.800 1.000 1 2013 2013
dbSNP: rs643434
rs643434
ABO
8 9 133266942 intron variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs8176743
rs8176743
ABO
7 1.000 0.040 9 133256028 missense variant C/T snv 0.12 0.11 0.800 1.000 1 2013 2013
dbSNP: rs4981022
rs4981022
NT5DC3 ; STAB2
2 12 103756096 intron variant G/A snv 0.69 0.700 1.000 3 2010 2019
dbSNP: rs4276643
rs4276643
SCARA5
2 8 27946082 intron variant C/T snv 0.64 0.700 1.000 2 2016 2019
dbSNP: rs10037055
rs10037055
NSD1
1 5 177264278 intron variant T/G snv 0.71 0.700 1.000 1 2013 2013
dbSNP: rs10039241
rs10039241
NSD1
1 5 177151071 intron variant G/A snv 0.26 0.700 1.000 1 2013 2013
dbSNP: rs10056655
rs10056655
NSD1
1 5 177249350 intron variant T/C snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs10072499
rs10072499
NSD1
1 5 177228236 intron variant T/G snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs10077929
rs10077929
NSD1
1 5 177270843 intron variant C/T snv 0.63 0.700 1.000 1 2013 2013
dbSNP: rs10484323
rs10484323
F13A1
1 6 6271953 intron variant T/C snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs10484502
rs10484502
F13B
1 1 197041345 intron variant G/A snv 0.44 0.700 1.000 1 2013 2013
dbSNP: rs10494747
rs10494747
ZBTB41
1 1 197194798 intron variant A/T snv 0.59 0.700 1.000 1 2013 2013
dbSNP: rs10498632
rs10498632
TC2N
2 14 91824400 intron variant A/G snv 0.29 0.700 1.000 1 2019 2019
dbSNP: rs1052432
rs1052432
NSD1
1 5 177137188 3 prime UTR variant G/A snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs1063857
rs1063857
VWF
4 12 6044348 synonymous variant A/G snv 0.31 0.40 0.700 1.000 1 2010 2010
dbSNP: rs10665
rs10665
MCF2L
2 13 113098517 3 prime UTR variant A/G snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs1070073
rs1070073
STAB2
2 12 103606541 intron variant T/G snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs10737670
rs10737670
KCNT2
2 1.000 0.040 1 196388616 intron variant A/C;G snv 0.27 0.700 1.000 1 2013 2013
dbSNP: rs10737680
rs10737680
CFH
9 0.827 0.080 1 196710325 intron variant A/C snv 0.44 0.700 1.000 1 2013 2013
dbSNP: rs10737685
rs10737685 		1 1 197035354 downstream gene variant A/G;T snv 0.700 1.000 1 2013 2013