Gene: TFR2 ×
Source: BEFREE ×
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: rs80338880
rs80338880
TFR2
12 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 0.030 1.000 3 2001 2004
dbSNP: rs1458641771
rs1458641771
TFR2
2 0.925 0.080 7 100632146 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs200249435
rs200249435
TFR2
5 0.827 0.200 7 100641071 missense variant G/A;C snv 4.2E-06; 8.3E-06 0.010 1.000 1 2015 2015
dbSNP: rs41303501
rs41303501
TFR2
3 0.882 0.080 7 100629279 missense variant C/T snv 1.9E-03 2.1E-03 0.010 1.000 1 2006 2006
dbSNP: rs768843272
rs768843272
TFR2
2 0.925 0.080 7 100629298 missense variant T/C snv 8.4E-05 7.7E-05 0.010 1.000 1 2006 2006
dbSNP: rs80338879
rs80338879
TFR2
3 0.882 0.080 7 100633515 missense variant A/T snv 8.3E-06 0.010 1.000 1 2006 2006
dbSNP: rs80338882
rs80338882
TFR2
3 0.851 0.080 7 100630973 stop gained G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs80338891
rs80338891
TFR2
3 0.851 0.080 7 100620889 missense variant C/T snv 4.8E-05 5.6E-05 0.010 1.000 1 2006 2006