Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267607156
rs267607156
TTN ; TTN-AS1
1.000 0.120 2 178527121 missense variant A/G snv
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		0.800 1.000 2 2002 2003
dbSNP: rs281864928
rs281864928
TTN ; TTN-AS1
1.000 0.120 2 178527148 missense variant A/C;G;T snv 4.0E-06; 4.0E-06
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		0.800 1.000 2 2002 2003