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: rs4636297
rs4636297
EGFL7 ; MIR126
14 0.724 0.360 9 136670698 intron variant A/G snv 0.67 0.65 0.010 1.000 1 2019 2019
dbSNP: rs531564
rs531564
LINC00599 ; MIR124-1
27 0.672 0.480 8 9903189 non coding transcript exon variant G/C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs746700511
rs746700511
PDXP
4 0.851 0.080 22 37665657 missense variant T/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs879253942
rs879253942
TP53
28 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2014 2014