Gene: TFR2 ×
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: rs750609759
rs750609759
TFR2
1 1.000 0.080 7 100627822 splice acceptor variant T/C snv 1.6E-05 7.0E-06 0.700 1.000 2 2013 2015
dbSNP: rs786204108
rs786204108
TFR2
1 1.000 0.080 7 100626866 missense variant C/G;T snv 1.3E-05 0.700 1.000 2 2013 2015
dbSNP: rs1051249273
rs1051249273
TFR2
1 1.000 0.080 7 100626885 stop gained G/A;T snv 4.8E-05 0.700 0
dbSNP: rs1220336558
rs1220336558
TFR2
1 1.000 0.080 7 100627389 stop gained G/A snv 5.9E-06 0.700 0
dbSNP: rs1426704853
rs1426704853
TFR2
1 1.000 0.080 7 100641009 frameshift variant G/- delins 0.700 0
dbSNP: rs1562838535
rs1562838535
TFR2
1 1.000 0.080 7 100627598 frameshift variant G/- delins 0.700 0
dbSNP: rs772104483
rs772104483
TFR2
1 1.000 0.080 7 100628288 missense variant C/A snv 8.0E-06 0.700 0
dbSNP: rs773050231
rs773050231
TFR2
1 1.000 0.080 7 100628299 frameshift variant C/- delins 1.1E-04 0.700 0
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: 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: rs80338880
rs80338880
TFR2
12 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs80338881
rs80338881
TFR2
2 0.925 0.080 7 100632099 stop gained G/A snv 0.010 1.000 1 2005 2005