Gene: TTN ×
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: rs794729354
rs794729354
TTN ; TTN-AS1
1 2 178559741 frameshift variant AGTAC/- del 0.700 0
dbSNP: rs869312054
rs869312054
TTN ; TTN-AS1
2 2 178593566 splice donor variant A/G snv 1.4E-05 0.700 0
dbSNP: rs869320740
rs869320740
TTN ; TTN-AS1
5 0.851 0.200 2 178546102 missense variant A/G snv 4.1E-06 0.700 0
dbSNP: rs876657670
rs876657670
TTN ; TTN-AS1
2 2 178560622 stop gained C/A;T snv 0.700 0
dbSNP: rs746365549
rs746365549
TTN
2 2 178782573 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2011 2011