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: rs751398376
rs751398376
TTN ; TTN-AS1
1.000 0.080 2 178609836 missense variant C/A;G snv 1.2E-05; 4.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs756924372
rs756924372
TTN ; TTN-AS1
1.000 0.080 2 178534461 missense variant G/A;C snv 4.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 0
dbSNP: rs764005465
rs764005465
TTN ; TTN-AS1
1.000 0.040 2 178572808 missense variant C/T snv 8.1E-06
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.700 0
dbSNP: rs778634417
rs778634417
TTN ; TTN-AS1
1.000 0.160 2 178633467 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.700 0
dbSNP: rs267607155
rs267607155
TTN
0.925 0.040 2 178782980 missense variant A/G;T snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.800 1.000 3 2002 2005
dbSNP: rs28933405
rs28933405
TTN
0.882 0.080 2 178785999 missense variant C/A;T snv 2.0E-05
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		0.800 1.000 2 1999 2011
dbSNP: rs139517732
rs139517732
TTN
0.851 0.040 2 178802273 missense variant C/T snv 4.4E-05 1.4E-05
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.800 1.000 3 2002 2005