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: rs10464870
rs10464870
CCDC26
3 0.882 0.040 8 129465577 intron variant C/T snv 0.80 0.010 1.000 1 2010 2010
dbSNP: rs1249080185
rs1249080185
EPHB2
3 0.882 0.080 1 22784698 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs12645561
rs12645561
NEIL3
3 0.882 0.120 4 177339718 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs13332653
rs13332653 		3 0.882 0.040 16 24578078 intergenic variant T/G snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs1346787
rs1346787
EFEMP1 ; LOC112268416
3 0.882 0.040 2 55865477 downstream gene variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs145929329
rs145929329
CDKN2B-AS1
3 0.882 0.040 9 22066213 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTTT delins 0.58 0.700 1.000 1 2015 2015
dbSNP: rs2033214
rs2033214
RBBP6
3 0.882 0.040 16 24566199 intron variant T/G snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs6470745
rs6470745
CCDC26
3 0.882 0.040 8 129629675 intron variant A/G snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs879254044
rs879254044
MSH2
3 0.925 0.040 2 47475148 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs9933544
rs9933544 		3 0.882 0.040 16 24576962 downstream gene variant A/C snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs75061358
rs75061358 		4 0.882 0.040 7 54848587 intergenic variant T/C;G snv 0.700 1.000 3 2015 2018
dbSNP: rs723527
rs723527
EGFR
4 0.882 0.040 7 55067179 intron variant A/G snv 0.53 0.700 1.000 2 2017 2018
dbSNP: rs1029044314
rs1029044314
DDR1
4 0.851 0.040 6 30898095 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs10852606
rs10852606
HEATR3
4 0.882 0.040 16 50094961 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11233250
rs11233250
MIR4300HG
4 0.882 0.040 11 82685972 intron variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs12230172
rs12230172
LOC105369844
4 0.882 0.040 12 75848895 intron variant A/G snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs12752552
rs12752552
RAVER2
4 0.882 0.040 1 64763616 intron variant T/C snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs1306185959
rs1306185959
FGFR1
4 0.851 0.040 8 38429805 missense variant T/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1320938886
rs1320938886
BLZF1
4 0.851 0.040 1 169376605 missense variant T/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1340827343
rs1340827343
POU5F1 ; TCF19
4 0.851 0.040 6 31165259 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1381537616
rs1381537616
HOXA9 ; HOXA10 ; HOXA10-HOXA9
4 0.851 0.040 7 27174132 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs144551722
rs144551722 		4 0.851 0.040 X 43632629 intergenic variant G/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs1801591
rs1801591
ETFA
4 0.882 0.040 15 76286421 missense variant G/A snv 7.4E-02 6.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs1957106
rs1957106
NFKBIA
4 0.851 0.040 14 35404564 synonymous variant G/A snv 0.28 0.25 0.010 1.000 1 2014 2014
dbSNP: rs200187877
rs200187877
PPARGC1A
4 0.851 0.040 4 23795829 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2009 2009