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: rs139517732
rs139517732
TTN
4 0.851 0.040 2 178802273 missense variant C/T snv 4.4E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs267607158
rs267607158
TTN ; TTN-AS1
4 0.851 0.040 2 178740125 stop gained G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs28933405
rs28933405
TTN
3 0.882 0.080 2 178785999 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs780379544
rs780379544
TTN ; TTN-AS1 ; LOC101927055
1 1.000 0.040 2 178776604 missense variant T/A;C snv 4.0E-06; 8.0E-06 0.010 1.000 1 2011 2011