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: rs11539196
rs11539196
AURKA
1 1.000 0.080 20 56370541 missense variant C/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs11556090
rs11556090
SMAD3
1 1.000 0.080 15 67194045 3 prime UTR variant A/G snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs11632348
rs11632348
IDH2-DT
1 1.000 0.080 15 90104814 intron variant C/A snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs11685758
rs11685758
ITGAV
1 1.000 0.080 2 186668641 non coding transcript exon variant C/T snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs1177928762
rs1177928762
PRKAB1
1 1.000 0.080 12 119674440 missense variant G/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs11871275
rs11871275
TADA2A
1 1.000 0.080 17 37409002 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs11950384
rs11950384
SPARC
1 1.000 0.080 5 151663652 intron variant G/A snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs1225943
rs1225943
TXNDC5 ; BLOC1S5-TXNDC5
1 1.000 0.080 6 7887712 intron variant C/A snv 0.54 0.010 1.000 1 2013 2013
dbSNP: rs1225944
rs1225944
TXNDC5 ; BLOC1S5-TXNDC5
1 1.000 0.080 6 7888855 splice region variant A/G snv 0.49 0.54 0.010 1.000 1 2013 2013
dbSNP: rs1229544
rs1229544 		1 1.000 0.080 7 97793192 intergenic variant C/T snv 4.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs12309362
rs12309362 		1 1.000 0.080 12 132466447 downstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs12478635
rs12478635
IDH1 ; IDH1-AS1
1 1.000 0.080 2 208255534 5 prime UTR variant G/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs12564469
rs12564469
CHD5
1 1.000 0.080 1 6150910 intron variant G/A snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs1260217389
rs1260217389
MBD2 ; SNORA37
1 1.000 0.080 18 54224232 missense variant C/A;T snv 5.9E-03; 2.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs12947947
rs12947947
RAD51D ; RAD51L3-RFFL
1 1.000 0.080 17 35100587 3 prime UTR variant G/A snv 2.6E-02 6.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs12956
rs12956
RYBP
1 1.000 0.080 3 72375320 3 prime UTR variant A/G snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs12971396
rs12971396
IFNL4
1 1.000 0.080 19 39247226 missense variant C/G snv 0.25 0.21 0.010 1.000 1 2018 2018
dbSNP: rs1305420126
rs1305420126
DKK2
1 1.000 0.080 4 106924184 synonymous variant G/A snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1336242054
rs1336242054
EGF
1 1.000 0.080 4 109974747 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs139394
rs139394
CBX7
1 1.000 0.080 22 39142209 intron variant A/C snv 0.70 0.010 1.000 1 2019 2019
dbSNP: rs1415125
rs1415125
LOC101928832
1 1.000 0.080 X 146868046 intergenic variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1421
rs1421
EPCAM
1 1.000 0.080 2 47386731 3 prime UTR variant T/C snv 0.10 0.010 1.000 1 2014 2014
dbSNP: rs142439607
rs142439607
LMCD1 ; LMCD1-AS1
1 1.000 0.080 3 8548890 missense variant A/G snv 1.1E-03 3.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs144479038
rs144479038
CDKN3
1 1.000 0.080 14 54411612 missense variant A/G snv 3.4E-04 2.4E-04 0.700 1.000 1 2000 2000
dbSNP: rs1477391368
rs1477391368
GOLGB1
1 1.000 0.080 3 121691082 missense variant T/A snv 4.0E-06 0.010 1.000 1 2017 2017