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: rs28939089
rs28939089
PSTPIP1
3 0.882 0.160 15 77032304 missense variant G/A;C snv 0.830 1.000 8 2002 2015
dbSNP: rs121908130
rs121908130
PSTPIP1
3 0.882 0.160 15 77031225 missense variant G/A snv 0.830 0.800 5 2002 2015
dbSNP: rs104895111
rs104895111
MEFV
2 0.925 0.160 16 3254317 stop gained C/A;G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs34240327
rs34240327
PSTPIP1
1 1.000 0.120 15 77032329 missense variant G/A;C snv 8.2E-03 0.010 1.000 1 2013 2013
dbSNP: rs368652620
rs368652620
FAM92A
2 0.925 0.160 8 93709810 stop gained C/G;T snv 4.0E-06; 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs565817241
rs565817241
GLI3
1 1.000 0.120 7 42045434 missense variant G/A;C snv 4.0E-06; 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs868749744
rs868749744
IL1B
1 1.000 0.120 2 112833417 synonymous variant C/T snv 0.010 1.000 1 2013 2013