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: rs137853099
rs137853099
RFX5
1 1.000 0.120 1 151344444 missense variant C/T snv 1.2E-05 0.700 1.000 1 2000 2000
dbSNP: rs372826934
rs372826934
CIITA
1 1.000 0.120 16 10910260 splice donor variant G/A snv 8.0E-06 2.8E-05 0.700 1.000 1 1993 1993
dbSNP: rs104894709
rs104894709
RFXANK
2 0.925 0.120 19 19197545 missense variant A/T snv 0.700 0
dbSNP: rs1313207845
rs1313207845
RFXAP
1 1.000 0.120 13 36819484 stop gained C/T snv 1.4E-05 2.1E-05 0.700 0
dbSNP: rs1568578781
rs1568578781
RFXANK
1 1.000 0.120 19 19197046 frameshift variant -/CTGCC ins 0.700 0
dbSNP: rs751386365
rs751386365
RFXANK
1 1.000 0.120 19 19198676 missense variant T/C snv 8.0E-06 0.700 0