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: 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: rs121908130
rs121908130
PSTPIP1
3 0.882 0.160 15 77031225 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs28939089
rs28939089
PSTPIP1
3 0.882 0.160 15 77032304 missense variant G/A;C snv 0.010 1.000 1 2003 2003
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