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: 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
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: rs267607157
rs267607157
TTN
1.000 0.040 2 178785990 missense variant G/A snv
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.800 1.000 3 2002 2005
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
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: rs281864908
rs281864908
TTN ; TTN-AS1
1.000 0.040 2 178738108 missense variant C/G;T snv 4.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 1.000 3 2002 2005
dbSNP: rs1003158162
rs1003158162
TTN ; TTN-AS1
1.000 0.080 2 178531968 missense variant G/A snv 4.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 0
dbSNP: rs1204056923
rs1204056923
TTN ; TTN-AS1
1.000 0.040 2 178590160 missense variant C/T snv 1.4E-05
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.700 0
dbSNP: rs1336054298
rs1336054298
TTN ; TTN-AS1
1.000 0.080 2 178590298 missense variant A/G snv 1.4E-05
CUI: C3165106
Disease: Infiltrating duct carcinoma of female breast
Infiltrating duct carcinoma of female breast 		0.700 0
dbSNP: rs1383995916
rs1383995916
TTN ; TTN-AS1
1.000 0.080 2 178589623 missense variant A/T snv 7.0E-06
CUI: C0345958
Disease: Large cell carcinoma of lung
Large cell carcinoma of lung 		0.700 0
dbSNP: rs1458591077
rs1458591077
TTN ; TTN-AS1
1.000 0.040 2 178630352 missense variant C/T snv
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.700 0
dbSNP: rs149061352
rs149061352
TTN
1.000 0.080 2 178785717 missense variant G/A;T snv 4.4E-05; 4.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs199642423
rs199642423
TTN ; TTN-AS1
1.000 0.040 2 178532705 missense variant C/T snv 2.8E-05 4.9E-05
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.700 0
dbSNP: rs199684560
rs199684560
TTN ; TTN-AS1
1.000 0.080 2 178633512 missense variant G/A snv 7.3E-05 4.2E-05
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 0
dbSNP: rs267599092
rs267599092
TTN ; TTN-AS1 ; LOC101927055
1.000 0.040 2 178779043 missense variant C/T snv
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.700 0
dbSNP: rs369098292
rs369098292
TTN ; TTN-AS1
1.000 0.040 2 178572742 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.700 0
dbSNP: rs370004591
rs370004591
TTN ; TTN-AS1 ; LOC101927055
1.000 0.080 2 178776789 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 0
dbSNP: rs373526624
rs373526624
TTN ; TTN-AS1
1.000 0.080 2 178607095 missense variant C/T snv 7.0E-04 1.6E-04
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 0
dbSNP: rs374713701
rs374713701
TTN ; TTN-AS1
1.000 0.040 2 178593660 missense variant C/A;T snv 4.0E-06; 8.1E-06
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.700 0
dbSNP: rs375029799
rs375029799
TTN ; TTN-AS1 ; LOC101927055
1.000 0.040 2 178776873 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C1335167
Disease: Ovarian Mucinous Adenocarcinoma
Ovarian Mucinous Adenocarcinoma 		0.700 0
dbSNP: rs375422359
rs375422359
TTN ; TTN-AS1
1.000 0.040 2 178563634 missense variant C/T snv 2.4E-05 3.5E-05
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.700 0
dbSNP: rs397517769
rs397517769
TTN ; TTN-AS1
1.000 0.080 2 178542408 missense variant C/T snv 5.6E-05 1.4E-05
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 0
dbSNP: rs397517792
rs397517792
TTN ; TTN-AS1
1.000 0.120 2 178764802 missense variant G/A snv 8.0E-06 2.8E-05
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.700 0
dbSNP: rs539470256
rs539470256
TTN ; TTN-AS1 ; LOC101927055
1.000 0.080 2 178779033 missense variant C/T snv 1.3E-04 7.7E-05
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 0