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: rs10842262
rs10842262
SOX5
5 0.851 0.040 12 24031610 intron variant G/C snv 0.43 0.020 0.500 2 2014 2019
dbSNP: rs12097821
rs12097821 		4 0.882 0.040 1 106793679 regulatory region variant G/A;T snv 0.020 < 0.001 2 2014 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2011 2012
dbSNP: rs2477686
rs2477686
PLCH2
7 0.807 0.040 1 2461209 intron variant G/C snv 0.64 0.020 0.500 2 2014 2019
dbSNP: rs1052482
rs1052482
STAG3 ; CASTOR3
1 1.000 0.040 7 100214213 3 prime UTR variant A/T snv 0.69 0.010 1.000 1 2020 2020
dbSNP: rs10849753
rs10849753
DYNLL1
1 1.000 0.040 12 120473010 intron variant C/T snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs1148247
rs1148247
CREM
3 0.882 0.160 10 35208018 intron variant G/A snv 0.33 0.010 1.000 1 2014 2014
dbSNP: rs12046213
rs12046213 		1 1.000 0.040 1 29186811 upstream gene variant G/A snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs1391626331
rs1391626331
TACR3
1 1.000 0.040 4 103591579 stop gained C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs161870
rs161870
MTRR
2 0.925 0.160 5 7878079 synonymous variant T/C snv 0.18 0.21 0.010 1.000 1 2019 2019
dbSNP: rs1727130
rs1727130
STAG3 ; CASTOR3
1 1.000 0.040 7 100213841 intron variant C/G;T snv 0.67; 1.6E-05 0.010 1.000 1 2020 2020
dbSNP: rs189037
rs189037
ATM ; NPAT
22 0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 0.010 1.000 1 2013 2013
dbSNP: rs2295415
rs2295415
CREM
3 0.882 0.160 10 35212510 3 prime UTR variant A/G snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs3129878
rs3129878
HLA-DRA
6 0.807 0.360 6 32440958 intron variant A/C snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2011 2011
dbSNP: rs4934540
rs4934540
CREM
1 1.000 0.040 10 35185771 intron variant T/C snv 0.33 0.010 1.000 1 2014 2014
dbSNP: rs498422
rs498422
TSBP1 ; TSBP1-AS1
3 0.882 0.160 6 32318984 intron variant T/G snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs4997052
rs4997052
HLA-B ; MIR6891
1 1.000 0.040 6 31356367 missense variant T/A;G snv 0.19; 0.21 0.010 1.000 1 2019 2019
dbSNP: rs6080550
rs6080550
LOC100289473
5 0.851 0.040 20 1778944 intron variant C/G;T snv 9.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs6103330
rs6103330
SRSF6
1 1.000 0.040 20 43458814 intron variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs757689467
rs757689467
PIWIL1
1 1.000 0.040 12 130346946 synonymous variant T/C snv 1.6E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs764088622
rs764088622
USP26
1 1.000 0.040 X 133027191 missense variant G/A snv 6.6E-05 2.9E-05 0.010 1.000 1 2016 2016