TNNI2, troponin I2, fast skeletal type, 7136

N. diseases: 64; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894311
rs104894311
Entrez Id: 7136;107984299
Gene Symbol: TNNI2;LOC107984299
TNNI2;LOC107984299
CUI: C1834523
Disease:
ARTHROGRYPOSIS, DISTAL, TYPE 2B 		0.800 GeneticVariation UNIPROT Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. 12592607 2003
dbSNP: rs104894311
rs104894311
Entrez Id: 7136;107984299
Gene Symbol: TNNI2;LOC107984299
TNNI2;LOC107984299
CUI: C1834523
Disease:
ARTHROGRYPOSIS, DISTAL, TYPE 2B 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894312
rs104894312
Entrez Id: 7136;107984299
Gene Symbol: TNNI2;LOC107984299
TNNI2;LOC107984299
CUI: C0265213
Disease:
Distal arthrogryposis syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894312
rs104894312
Entrez Id: 7136;107984299
Gene Symbol: TNNI2;LOC107984299
TNNI2;LOC107984299
CUI: C1860450
Disease:
Calcaneovalgus deformity 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894312
rs104894312
Entrez Id: 7136;107984299
Gene Symbol: TNNI2;LOC107984299
TNNI2;LOC107984299
CUI: C0231678
Disease:
Ulnar deviation of the wrist 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894312
rs104894312
Entrez Id: 7136;107984299
Gene Symbol: TNNI2;LOC107984299
TNNI2;LOC107984299
CUI: C1393871
Disease:
Congenital finger flexion contractures 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894312
rs104894312
Entrez Id: 7136;107984299
Gene Symbol: TNNI2;LOC107984299
TNNI2;LOC107984299
CUI: C1834523
Disease:
ARTHROGRYPOSIS, DISTAL, TYPE 2B 		T 0.700 CausalMutation CLINVAR
dbSNP: rs199474800
rs199474800
Entrez Id: 7136;107984299
Gene Symbol: TNNI2;LOC107984299
TNNI2;LOC107984299
CUI: C1834523
Disease:
ARTHROGRYPOSIS, DISTAL, TYPE 2B 		C 0.700 CausalMutation CLINVAR
dbSNP: rs797046046
rs797046046
Entrez Id: 7136;107984299
Gene Symbol: TNNI2;LOC107984299
TNNI2;LOC107984299
CUI: C1834523
Disease:
ARTHROGRYPOSIS, DISTAL, TYPE 2B 		T 0.700 GeneticVariation CLINVAR