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: rs7775
rs7775
FRZB
14 0.732 0.240 2 182834857 missense variant G/A;C;T snv 8.0E-05; 8.0E-02; 5.6E-05 0.800 1.000 1 2004 2004
dbSNP: rs1569113445
rs1569113445
TLR8 ; TLR8-AS1
1 1.000 X 12906527 intron variant G/C snv 0.700 0
dbSNP: rs1569113447
rs1569113447
TLR8 ; TLR8-AS1
1 1.000 X 12906538 intron variant T/A snv 0.700 0
dbSNP: rs288326
rs288326
FRZB
9 0.807 0.120 2 182838608 missense variant G/A snv 8.2E-02 8.3E-02 0.700 0