Gene: RTEL1 ×
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: rs398123017
rs398123017
RTEL1 ; RTEL1-TNFRSF6B
4 0.851 0.160 20 63693211 stop gained C/A;G;T snv 4.0E-06; 3.2E-05 0.700 1.000 4 2013 2015
dbSNP: rs201540674
rs201540674
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
4 0.851 0.160 20 63695619 missense variant G/A snv 1.6E-04 7.7E-05 0.700 1.000 3 2013 2015
dbSNP: rs398123018
rs398123018
RTEL1 ; RTEL1-TNFRSF6B
2 0.925 0.120 20 63693160 missense variant C/A;G;T snv 1.2E-05; 4.0E-06; 4.0E-05 0.700 1.000 3 2013 2014
dbSNP: rs1555899111
rs1555899111
RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.120 20 63659506 splice donor variant T/C snv 0.700 1.000 2 2013 2014
dbSNP: rs370343781
rs370343781
RTEL1 ; RTEL1-TNFRSF6B
3 0.882 0.120 20 63687765 missense variant G/T snv 4.9E-05 7.0E-06 0.700 1.000 2 2013 2013
dbSNP: rs1449687529
rs1449687529
RTEL1 ; RTEL1-TNFRSF6B
3 0.882 0.120 20 63692960 frameshift variant C/- delins 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs373740199
rs373740199
RTEL1 ; RTEL1-TNFRSF6B
4 0.851 0.120 20 63693247 stop gained C/A;T snv 8.0E-06; 7.2E-05 0.700 1.000 1 2013 2013
dbSNP: rs776744306
rs776744306
RTEL1 ; RTEL1-TNFRSF6B
3 0.882 0.160 20 63690442 splice donor variant G/A;C snv 4.5E-06 0.700 1.000 1 2015 2015
dbSNP: rs863225129
rs863225129
RTEL1 ; RTEL1-TNFRSF6B
2 0.925 0.160 20 63687936 splice acceptor variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1555814400
rs1555814400
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.120 20 63695091 frameshift variant C/- delins 0.700 0
dbSNP: rs1555899096
rs1555899096
RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.120 20 63659451 missense variant C/T snv 0.700 0
dbSNP: rs1555903332
rs1555903332
RTEL1 ; RTEL1-TNFRSF6B
1 1.000 0.120 20 63679947 splice donor variant G/A snv 0.700 0