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: rs1057519925
rs1057519925
PIK3CA
25 0.683 0.560 3 179210291 missense variant G/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs1494961
rs1494961
HELQ
3 0.925 0.160 4 83453327 missense variant C/T snv 0.56 0.60 0.010 1.000 1 2014 2014
dbSNP: rs1864183
rs1864183
ATG10
12 0.742 0.240 5 82253397 missense variant C/T snv 0.52 0.40 0.010 1.000 1 2017 2017
dbSNP: rs2230600
rs2230600
PTPN13
5 0.827 0.160 4 86769845 missense variant A/G snv 0.18 0.14 0.010 1.000 1 2009 2009
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2017 2017
dbSNP: rs35431622
rs35431622
KISS1
4 0.851 0.120 1 204190794 missense variant T/A;C snv 5.5E-05; 4.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs3759601
rs3759601
ATG2B
7 0.790 0.240 14 96311131 missense variant G/C snv 0.36 0.32 0.010 1.000 1 2017 2017
dbSNP: rs763015080
rs763015080
EDNRA
4 0.851 0.120 4 147539821 missense variant G/A snv 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs989902
rs989902
PTPN13
12 0.742 0.240 4 86785353 missense variant T/G snv 0.42 0.53 0.010 1.000 1 2009 2009