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: rs1060499680
rs1060499680
GNPTAB
6 0.882 0.200 12 101768036 splice donor variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1800587
rs1800587
IL1A
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.020 1.000 2 2014 2014
dbSNP: rs1143627
rs1143627
IL1B
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs1337185
rs1337185
COL11A1
5 0.851 0.160 1 103079209 intron variant C/G;T snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs162509
rs162509
ADAMTS5 ; MIR4759
3 0.925 0.160 21 26953456 intron variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2013 2013
dbSNP: rs1799971
rs1799971
OPRM1
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2014 2014
dbSNP: rs2069718
rs2069718
IFNG ; IFNG-AS1
14 0.742 0.320 12 68156382 intron variant A/G;T snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs2234677
rs2234677
IL1RN
2 2 113117932 5 prime UTR variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs6746030
rs6746030
SCN9A ; SCN1A-AS1
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 1.000 1 2018 2018