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: rs121912288
rs121912288
DKC1 ; SNORA56
2 0.925 0.120 X 154773152 missense variant C/T snv 0.750 1.000 10 1999 2015
dbSNP: rs121908091
rs121908091
NHP2 ; RMND5B
2 0.925 0.120 5 178149715 stop lost A/T snv 0.710 1.000 1 2019 2019
dbSNP: rs121912296
rs121912296
DKC1
2 0.925 0.120 X 154765474 missense variant A/G snv 0.710 1.000 1 2019 2019
dbSNP: rs121918543
rs121918543
TINF2
3 0.882 0.200 14 24240642 stop gained T/A;C snv 0.710 1.000 1 2008 2008
dbSNP: rs121918545
rs121918545
TINF2
2 0.925 0.120 14 24240636 missense variant G/A;T snv 0.710 1.000 1 2008 2008
dbSNP: rs199422243
rs199422243
DKC1
1 1.000 0.120 X 154765486 missense variant A/G snv 0.710 1.000 1 2019 2019
dbSNP: rs199473679
rs199473679
CTC1
3 0.882 0.360 17 8229946 inframe deletion CAA/- delins 2.0E-05 1.3E-04 0.700 1.000 6 2012 2013
dbSNP: rs137854489
rs137854489
DKC1
2 0.925 0.120 X 154765466 inframe deletion CTT/- delins 0.700 1.000 5 1998 2015
dbSNP: rs199473674
rs199473674
CTC1
2 0.925 0.360 17 8237440 frameshift variant TTCT/- delins 2.0E-04 1.7E-04 0.700 1.000 5 2012 2013
dbSNP: rs121912304
rs121912304
DKC1
2 0.925 0.120 X 154765505 missense variant C/T snv 0.700 1.000 4 1999 2014
dbSNP: rs202138550
rs202138550
CTC1
2 0.925 0.360 17 8229943 missense variant G/A snv 5.6E-05 4.9E-05 0.700 1.000 4 2012 2013
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: rs199473677
rs199473677
CTC1
3 0.882 0.360 17 8230396 frameshift variant G/-;GG delins 3.8E-04 0.700 1.000 2 2012 2013
dbSNP: rs200609323
rs200609323
CTC1
2 0.925 0.360 17 8230562 splice donor variant C/A snv 2.0E-05 2.1E-05 0.700 1.000 2 2012 2012
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: rs387907080
rs387907080
CTC1
2 0.925 0.360 17 8237392 missense variant C/T snv 8.0E-06 0.700 1.000 2 2013 2018
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: rs1060503011
rs1060503011
TERT
1 1.000 0.120 5 1279410 missense variant G/A;C snv 7.0E-06 0.700 0
dbSNP: rs111576740
rs111576740
TERT
2 0.925 0.120 5 1266537 splice acceptor variant T/C;G snv 0.700 0