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: rs2276939
rs2276939
H2AZ1 ; H2AZ1-DT
1 1.000 0.040 4 99949218 non coding transcript exon variant T/A;G snv 0.020 1.000 2 2015 2015
dbSNP: rs10014424
rs10014424
DNAJB14
1 1.000 0.040 4 99943207 intron variant G/A snv 6.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs6854536
rs6854536
DNAJB14
1 1.000 0.040 4 99941725 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs680055
rs680055
CYP3A43
5 0.851 0.120 7 99859982 missense variant C/A;G snv 6.5E-02 0.13 0.010 1.000 1 2015 2015
dbSNP: rs7968606
rs7968606
ANKS1B
1 1.000 0.040 12 99423064 intron variant C/T snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs2693698
rs2693698
BCL11B
1 1.000 0.040 14 99252882 intron variant A/G snv 0.59 0.700 1.000 5 2014 2019
dbSNP: rs35604463
rs35604463
BCL11B
1 1.000 0.040 14 99245695 intron variant G/A snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs10745841
rs10745841
ANKS1B ; LOC101928937
1 1.000 0.040 12 99099957 intron variant G/C;T snv 0.54 0.700 1.000 1 2015 2015
dbSNP: rs9922678
rs9922678
GRIN2A
1 1.000 0.040 16 9852462 intron variant G/A;C snv 0.700 1.000 4 2014 2019
dbSNP: rs9556958
rs9556958
STK24 ; FARP1
3 1.000 0.040 13 98447792 3 prime UTR variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs16914811
rs16914811
GABBR2
1 1.000 0.040 9 98314345 intron variant G/A snv 0.15 0.700 1.000 1 2015 2015
dbSNP: rs3824451
rs3824451
GABBR2
1 1.000 0.040 9 98309240 intron variant T/C snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs1198588
rs1198588 		2 1.000 0.040 1 98087276 intergenic variant A/T snv 0.78 0.810 1.000 3 2012 2017
dbSNP: rs1198589
rs1198589 		1 1.000 0.040 1 98084855 intergenic variant T/C snv 0.85 0.700 1.000 2 2017 2019
dbSNP: rs7191183
rs7191183
GRIN2A ; LOC105371077
2 1.000 0.040 16 9806200 intron variant T/C snv 0.35 0.700 1.000 3 2017 2019
dbSNP: rs3739670
rs3739670
NANS
2 0.925 0.120 9 98056910 missense variant C/G;T snv 4.2E-06; 0.27 0.010 1.000 1 2009 2009
dbSNP: rs2660304
rs2660304
MIR137HG ; MIR137 ; MIR2682
2 0.925 0.120 1 98046571 non coding transcript exon variant G/T snv 0.83 0.710 1.000 3 2015 2018
dbSNP: rs1625579
rs1625579
MIR137HG
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.900 0.893 28 2011 2019
dbSNP: rs1782810
rs1782810
MIR137HG
2 1.000 0.040 1 98036784 intron variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1702294
rs1702294
MIR137HG
1 1.000 0.040 1 98036428 intron variant T/A;C snv 0.700 1.000 3 2014 2019
dbSNP: rs626716
rs626716
IPO5
1 1.000 0.040 13 97992999 synonymous variant A/G snv 7.9E-02 7.2E-02 0.020 1.000 2 2004 2007
dbSNP: rs2588014
rs2588014
IPO5
1 1.000 0.040 13 97989460 intron variant A/G snv 7.2E-02 0.010 1.000 1 2007 2007
dbSNP: rs80289781
rs80289781
DPYD ; MIR137HG
2 1.000 0.040 1 97980274 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs9375031
rs9375031 		2 1.000 0.040 6 97968029 intron variant C/T snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs61789073
rs61789073
DPYD ; MIR137HG ; LINC01930
2 1.000 0.040 1 97938540 intron variant T/C snv 4.9E-02 0.700 1.000 1 2017 2017