Gene: IRF2BPL ×
Source: CLINVAR ×
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: rs1555377336
rs1555377336
IRF2BPL ; LOC107984638
1 1.000 14 77026678 missense variant G/C snv 0.800 1.000 0 2018 2019
dbSNP: rs1292724234
rs1292724234
IRF2BPL ; LOC107984638
1 1.000 14 77027414 stop gained G/A;T snv 0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs1555377483
rs1555377483
IRF2BPL ; LOC107984638
1 1.000 14 77027417 stop gained G/A snv 0.700 0
dbSNP: rs1566786207
rs1566786207
IRF2BPL ; LOC107984638
1 1.000 14 77026831 frameshift variant G/- del 0.700 0
dbSNP: rs201073695
rs201073695
IRF2BPL ; LOC107984638
1 1.000 14 77026539 missense variant C/G;T snv 3.6E-05 1.4E-05 0.700 0