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: rs16851055
rs16851055
SPSB4
1 3 141080371 non coding transcript exon variant G/A snv 0.26 0.800 1.000 2 2012 2014
dbSNP: rs28688791
rs28688791
HDAC9
1 7 18999982 3 prime UTR variant T/A;C snv 0.020 1.000 2 2018 2019
dbSNP: rs9521634
rs9521634
COL4A1
1 13 110181552 intron variant T/A;C snv 0.710 1.000 2 2018 2018
dbSNP: rs10089084
rs10089084
IDO1
1 8 39912430 intron variant G/C snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs10123021
rs10123021 		1 9 100689786 regulatory region variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10414398
rs10414398
CEACAM20
1 19 44517149 missense variant G/A snv 0.14 0.15 0.700 1.000 1 2013 2013
dbSNP: rs10478723
rs10478723
EDN1
1 6 12295228 intron variant G/A snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs10848683
rs10848683
CACNA1C ; CACNA1C-AS1
1 12 2681964 missense variant C/T snv 4.0E-06; 0.78 0.71 0.010 1.000 1 2018 2018
dbSNP: rs10890917
rs10890917 		1 11 108988857 intergenic variant C/A;G snv 3.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs11044400
rs11044400 		1 12 19033113 intergenic variant C/T snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs11240065
rs11240065
LINC00624
1 1 147468451 intron variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs112896372
rs112896372 		1 5 3756587 intergenic variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1132896
rs1132896
MMP2
1 16 55485623 synonymous variant G/C snv 0.31 0.26 0.010 1.000 1 2018 2018
dbSNP: rs11548491
rs11548491
INPPL1
1 11 72237492 missense variant C/G;T snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs11628722
rs11628722
SERPINA9
1 14 94464768 missense variant A/G snv 0.78 0.71 0.010 1.000 1 2008 2008
dbSNP: rs11670734
rs11670734 		1 19 29580124 intergenic variant C/G snv 0.63 0.010 1.000 1 2009 2009
dbSNP: rs11681884
rs11681884 		1 2 113090051 downstream gene variant C/T snv 0.21 0.700 1.000 1 2015 2015
dbSNP: rs12291066
rs12291066
MICAL2
1 11 12213613 intron variant G/A snv 3.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs12417971
rs12417971 		1 11 69202341 intergenic variant C/T snv 6.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs12442374
rs12442374 		1 15 56012299 intergenic variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12646447
rs12646447 		1 4 110778170 intergenic variant T/C snv 0.15 0.800 1.000 1 2014 2014
dbSNP: rs1290267513
rs1290267513
TCF7L2
1 10 113146078 missense variant G/A snv 4.0E-06 7.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs13168506
rs13168506
TGFBI
1 5 136060763 intron variant A/G snv 0.57 0.700 1.000 1 2015 2015
dbSNP: rs13407662
rs13407662
ASB3
1 2 53555422 intron variant C/T snv 4.4E-02 0.800 1.000 1 2012 2012
dbSNP: rs145067756
rs145067756
UBE2Z
1 17 48923631 intron variant -/AAACAATGTCACAG;AAAGAATGTCACAG;AAAGAATGTCGCAG;AATGTCACAG;AGAGAATGTCACAG delins 0.40 0.700 1.000 1 2011 2011