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: rs228503
rs228503
ADGRL4
3 0.882 0.200 1 79217216 intron variant T/C snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs243865
rs243865
MMP2
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs900
rs900
TGFB2 ; TGFB2-OT1
6 0.882 0.040 1 218441563 3 prime UTR variant A/T snv 0.33 0.010 1.000 1 2018 2018