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: rs121917887
rs121917887
NME1 ; NME1-NME2
10 0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05 0.010 1.000 1 1996 1996
dbSNP: rs201216664
rs201216664
NME2 ; NME1-NME2
5 0.851 0.080 17 51171503 missense variant A/G snv 0.010 1.000 1 1996 1996
dbSNP: rs3768716
rs3768716
BARD1
4 0.851 0.080 2 214771070 intron variant T/C snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs6435862
rs6435862
BARD1
5 0.827 0.160 2 214807822 intron variant G/A;C;T snv 0.010 1.000 1 2016 2016