Gene: TTN-AS1 ×
Source: CLINVAR ×
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: rs574660186
rs574660186
TTN ; TTN-AS1
7 0.807 0.200 2 178579702 stop gained G/A;C snv 1.6E-05 3.5E-05 0.700 1.000 1 2012 2012
dbSNP: rs1553543413
rs1553543413
TTN ; TTN-AS1
6 0.807 0.200 2 178553783 frameshift variant -/T delins 0.700 0
dbSNP: rs1553809971
rs1553809971
TTN ; TTN-AS1
1 1.000 0.120 2 178672415 frameshift variant G/- delins 0.700 0
dbSNP: rs1559173391
rs1559173391
TTN ; TTN-AS1
1 1.000 0.120 2 178548813 frameshift variant -/T delins 0.700 0
dbSNP: rs1560513651
rs1560513651
TTN ; TTN-AS1
1 1.000 0.120 2 178704408 splice acceptor variant C/G snv 0.700 0
dbSNP: rs199469665
rs199469665
TTN ; TTN-AS1
1 1.000 0.120 2 178531080 frameshift variant CACTTGGT/- delins 0.700 0
dbSNP: rs587776772
rs587776772
TTN ; TTN-AS1
1 1.000 0.120 2 178529083 frameshift variant T/- delins 0.700 0
dbSNP: rs794729340
rs794729340
TTN ; TTN-AS1
6 0.807 0.200 2 178570991 frameshift variant TCTT/- delins 0.700 0
dbSNP: rs869178171
rs869178171
TTN ; TTN-AS1
7 0.790 0.200 2 178563475 stop gained C/A snv 0.700 0
dbSNP: rs869312099
rs869312099
TTN ; TTN-AS1
6 0.807 0.200 2 178738361 splice acceptor variant C/T snv 4.1E-06 1.4E-05 0.700 0