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: rs117889746
rs117889746
PZP ; KLRG1
2 12 9181030 stop gained G/A snv 6.6E-03 2.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs1181611385
rs1181611385
MTG1
2 10 133394232 synonymous variant C/A;G;T snv 9.2E-06; 9.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs1189209220
rs1189209220
PTPRC
2 1 198706883 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1190488467
rs1190488467
PTPN13
2 4 86701433 missense variant A/C snv 8.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs1196333
rs1196333
MDM2
2 12 68808835 intron variant T/A snv 4.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs1204442125
rs1204442125
ADAM17
2 2 9527876 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs12048235
rs12048235
THEMIS2
2 1 27879373 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs12233719
rs12233719
UGT2B7
2 4 69096731 missense variant G/A;C;T snv 1.6E-05; 1.6E-05; 1.4E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs1224499130
rs1224499130
JUN
2 1 58782620 missense variant C/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1247974770
rs1247974770
RAD51
2 15 40718820 missense variant G/T snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1260256848
rs1260256848
BRD2
2 6 32976634 missense variant G/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs12721627
rs12721627
CYP3A4
2 7 99768470 missense variant G/C snv 7.6E-05 5.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs1276639827
rs1276639827
CDKN1A
2 6 36684171 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1279983084
rs1279983084
FANCA
2 16 89752163 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs1284653043
rs1284653043
ATG7
2 3 11313353 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1285547057
rs1285547057
ZEB1
2 10 31520321 missense variant G/A snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs1322051434
rs1322051434
APC
2 5 112838427 missense variant A/T snv 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1325081370
rs1325081370
DDR1
2 6 30898263 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1331681068
rs1331681068
SHMT1
2 17 18333280 missense variant C/T snv 8.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs1339197
rs1339197
PTPRK
2 6 128287066 intron variant G/A snv 0.55 0.010 1.000 1 2018 2018
dbSNP: rs1372047743
rs1372047743
MCM4 ; PRKDC
3 8 47960120 missense variant C/T snv 9.7E-06 0.010 1.000 1 2015 2015
dbSNP: rs138105638
rs138105638
CYP3A4
3 7 99766440 stop gained G/A;T snv 6.4E-05 7.7E-05 0.010 1.000 1 2018 2018
dbSNP: rs1389544235
rs1389544235
PROS1
2 3 93905912 missense variant A/G snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1393141051
rs1393141051
BARD1
2 2 214745749 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs140516819
rs140516819
EGFR
4 7 55172999 missense variant A/C;G snv 4.0E-05 2.4E-04 0.010 1.000 1 2017 2017