Gene: TTN ×
Source: CURATED ×
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: rs72677232
rs72677232
TTN ; TTN-AS1
1 2 178618210 missense variant C/T snv 1.6E-03 2.0E-03 0.700 0
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
8 1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs760768093
rs760768093
TTN ; TTN-AS1
7 0.882 0.160 2 178533255 frameshift variant C/- delins 2.4E-05 1.4E-05 0.700 0