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: rs121918467
rs121918467
PTPN11
23 0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs137852981
rs137852981
ZEB2
30 0.752 0.480 2 144399104 stop gained G/A snv 0.700 0
dbSNP: rs1557569831
rs1557569831
SZT2
8 0.925 0.120 1 43431458 splice acceptor variant A/G snv 0.700 0
dbSNP: rs397517148
rs397517148
SOS1
27 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
dbSNP: rs746200792
rs746200792
SZT2
8 0.925 0.120 1 43437254 inframe deletion TGT/- delins 0.700 0