Gene: INF2 ×
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: rs530391015
rs530391015
INF2
5 0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs1186292917
rs1186292917
INF2
1 1.000 0.080 14 104703420 frameshift variant GC/- delins 0.010 1.000 1 2018 2018
dbSNP: rs267606879
rs267606879
INF2
2 0.925 0.080 14 104703428 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs754313620
rs754313620
INF2
2 0.925 0.080 14 104714452 missense variant T/C;G snv 7.0E-06 0.010 1.000 1 2018 2018