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: rs12964965
rs12964965
DLGAP1
2 0.925 0.080 18 3520557 intron variant T/C snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2008 2008
dbSNP: rs2813544
rs2813544
ESR1
2 0.925 0.080 6 152104447 intron variant A/G snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs3020450
rs3020450
ESR2
10 0.807 0.200 14 64301584 splice region variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs57077886
rs57077886
LMNA
9 0.776 0.240 1 156114947 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs763744183
rs763744183
CAVIN1 ; LOC102725238
2 0.925 0.080 17 42422922 missense variant T/A snv 1.2E-05 0.010 1.000 1 2016 2016