rs587776652, SDHC

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PARAGANGLIOMAS 3
CUI: C1854336
Disease: PARAGANGLIOMAS 3
0.700 CausalMutation CLINVAR Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3. 22351710 2012
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 CausalMutation CLINVAR Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3. 22351710 2012
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 CausalMutation CLINVAR Mutations in SDHC cause autosomal dominant paraganglioma, type 3. 11062460 2000
PARAGANGLIOMAS 3
CUI: C1854336
Disease: PARAGANGLIOMAS 3
0.700 CausalMutation CLINVAR Mutations in SDHC cause autosomal dominant paraganglioma, type 3. 11062460 2000
Paraganglioma of head and neck
CUI: C1333944
Disease: Paraganglioma of head and neck
0.010 GeneticVariation BEFREE This study confirmed that the missense mutation p.Met1Ile at the start codon in SDHD was a hotspot in chinese patients with HNPGLs. 26096992 2015
Color Blindness, Blue
CUI: C0155017
Disease: Color Blindness, Blue
0.010 GeneticVariation BEFREE The proband with unilateral CBT had a germline SDHC c.3G>A (p.M1I) mutation. 22351710 2012