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: rs55819519
rs55819519
TP53
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2015 2015
dbSNP: rs670
rs670
APOA1 ; APOA1-AS
13 0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs746830376
rs746830376
EPHB2
4 0.925 0.200 1 22784501 missense variant G/A snv 2.4E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs747489687
rs747489687
MCPH1
4 0.925 0.080 8 6444626 frameshift variant AAGAAATATTGCA/- delins 2.3E-04 1.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs778264641
rs778264641
SND1
1 7 127686719 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs894151
rs894151
C8orf37-AS1
2 1.000 0.080 8 95226180 intron variant T/C snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs984502020
rs984502020
NR1I2
1 3 119807429 missense variant G/C snv 0.010 1.000 1 2010 2010
dbSNP: rs9926344
rs9926344
WWOX
2 1.000 0.080 16 78986883 intron variant G/A;C;T snv 0.010 1.000 1 2018 2018