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: rs10274
rs10274
PTPRCAP ; RPS6KB2 ; CORO1B ; RPS6KB2-AS1
1 1.000 0.040 11 67435355 3 prime UTR variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1061280
rs1061280
SMO
1 1.000 0.040 7 129213282 3 prime UTR variant A/G snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs1061285
rs1061285
SMO
2 0.925 0.120 7 129213467 3 prime UTR variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs689470
rs689470
PTGS2
9 0.776 0.240 1 186671926 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2014 2014