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: rs397517565
rs397517565
TTN ; TTN-AS1
1 2 178635714 frameshift variant T/- delins 0.700 0
dbSNP: rs397517576
rs397517576
TTN ; TTN-AS1
1 2 178629361 frameshift variant G/- delins 0.700 0
dbSNP: rs397517584
rs397517584
TTN ; TTN-AS1
1 2 178620451 frameshift variant AT/- del 0.700 0
dbSNP: rs397517586
rs397517586
TTN ; TTN-AS1
1 2 178618777 stop gained A/G;T snv 0.700 0
dbSNP: rs397517589
rs397517589
TTN ; TTN-AS1
1 2 178617845 stop gained G/A snv 0.700 0
dbSNP: rs397517601
rs397517601
TTN ; TTN-AS1
1 2 178611611 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs397517620
rs397517620
TTN ; TTN-AS1
1 2 178604051 stop gained A/C;G snv 0.700 0
dbSNP: rs397517624
rs397517624
TTN ; TTN-AS1
1 2 178599145 splice donor variant C/T snv 0.700 0
dbSNP: rs397517628
rs397517628
TTN ; TTN-AS1
1 2 178597955 frameshift variant C/- delins 0.700 0
dbSNP: rs397517633
rs397517633
TTN ; TTN-AS1
1 2 178594499 frameshift variant T/- del 7.0E-06 0.700 0
dbSNP: rs397517679
rs397517679
TTN ; TTN-AS1
1 2 178576783 frameshift variant CTT/-;CTTTCTT delins 4.0E-06 0.700 0
dbSNP: rs397517695
rs397517695
TTN ; TTN-AS1
1 2 178572305 frameshift variant T/- delins 0.700 0
dbSNP: rs397517698
rs397517698
TTN ; TTN-AS1 ; LOC101927055
1 2 178775030 frameshift variant TTCT/- delins 0.700 0
dbSNP: rs397517721
rs397517721
TTN ; TTN-AS1
1 2 178564600 stop gained C/A snv 0.700 0
dbSNP: rs397517741
rs397517741
TTN ; TTN-AS1
1 2 178553912 splice donor variant CCA/- delins 0.700 0
dbSNP: rs397517758
rs397517758
TTN ; TTN-AS1
1 2 178547729 frameshift variant A/- delins 0.700 0
dbSNP: rs397517787
rs397517787
TTN ; TTN-AS1
1 2 178533666 stop gained G/A snv 0.700 0
dbSNP: rs397517830
rs397517830
TTN ; TTN-AS1
1 2 178741025 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs587782987
rs587782987
TTN ; TTN-AS1
1 2 178611274 splice region variant G/A snv 1.1E-04; 4.1E-06 1.0E-04 0.700 0
dbSNP: rs6716782
rs6716782
TTN ; TTN-AS1
1 2 178706956 splice acceptor variant T/G snv 1.3E-04 5.9E-04 0.700 0
dbSNP: rs72646831
rs72646831
TTN ; TTN-AS1
1 2 178597751 stop gained G/A snv 0.700 0
dbSNP: rs72648265
rs72648265
TTN ; TTN-AS1
1 2 178544263 frameshift variant T/- delins 0.700 0
dbSNP: rs727503537
rs727503537
TTN ; TTN-AS1
1 2 178537079 frameshift variant AGACA/- delins 0.700 0
dbSNP: rs727503547
rs727503547
TTN ; TTN-AS1
1 2 178547446 frameshift variant G/CTGCTAGA delins 0.700 0
dbSNP: rs727503557
rs727503557
TTN ; TTN-AS1
1 2 178564246 frameshift variant C/- del 0.700 0