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: rs1553284997
rs1553284997
RPL5 ; DIPK1A
17 0.790 0.400 1 92833544 splice acceptor variant G/C snv 0.700 0
dbSNP: rs77078070
rs77078070
KLHL7
26 0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs2834167
rs2834167
IL10RB
11 0.752 0.360 21 33268483 missense variant A/G snv 0.33 0.25 0.010 1.000 1 2019 2019
dbSNP: rs4143815
rs4143815
CD274
20 0.689 0.400 9 5468257 3 prime UTR variant G/C snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs7854413
rs7854413
PDCD1LG2
4 0.882 0.120 9 5557708 missense variant T/C snv 0.14 0.24 0.010 1.000 1 2019 2019