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: rs121918544
rs121918544
TINF2
7 0.827 0.200 14 24240635 missense variant C/T snv 0.800 1.000 2 2008 2018
dbSNP: rs121918543
rs121918543
TINF2
3 0.882 0.200 14 24240642 stop gained T/A;C snv 0.800 1.000 1 2008 2008
dbSNP: rs121918545
rs121918545
TINF2
2 0.925 0.120 14 24240636 missense variant G/A;T snv 0.800 1.000 1 2008 2008
dbSNP: rs1060499576
rs1060499576
TINF2
2 0.925 0.080 14 24242252 stop gained G/T snv 0.700 0
dbSNP: rs387907153
rs387907153
TINF2
1 1.000 14 24240675 stop gained G/A snv 0.700 0
dbSNP: rs387907154
rs387907154
TINF2
1 1.000 14 24240669 stop gained G/A snv 0.700 0
dbSNP: rs863223324
rs863223324
TINF2
1 1.000 14 24240654 frameshift variant T/- del 0.700 0