Gene: SDHD ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060503770
rs1060503770
SDHD
T 0.710 CausalMutation CLINVAR

dbSNP: rs104894310
rs104894310
SDHD ; TIMM8B
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060503769
rs1060503769
SDHD
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060503773
rs1060503773
SDHD
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1566690018
rs1566690018
SDHD ; TIMM8B
C 0.700 CausalMutation CLINVAR

dbSNP: rs587776648
rs587776648
SDHD
T 0.700 CausalMutation CLINVAR

dbSNP: rs587782210
rs587782210
SDHD ; TIMM8B
A 0.700 CausalMutation CLINVAR

dbSNP: rs864321644
rs864321644
SDHD
C 0.700 GeneticVariation CLINVAR

dbSNP: rs876658477
rs876658477
SDHD
G 0.700 GeneticVariation CLINVAR

dbSNP: rs878854589
rs878854589
SDHD ; TIMM8B
TC 0.700 CausalMutation CLINVAR

dbSNP: rs878854590
rs878854590
SDHD
T 0.700 CausalMutation CLINVAR

dbSNP: rs878854591
rs878854591
SDHD
T 0.700 CausalMutation CLINVAR

dbSNP: rs80338844
rs80338844
SDHD
T 0.800 CausalMutation CLINVAR Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. 10657297

2000
dbSNP: rs104894302
rs104894302
SDHD
T 0.700 GeneticVariation CLINVAR Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. 10657297

2000
dbSNP: rs80338843
rs80338843
SDHD ; TIMM8B
T 0.700 CausalMutation CLINVAR Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. 11156372

2000
dbSNP: rs80338843
rs80338843
SDHD ; TIMM8B
T 0.700 CausalMutation CLINVAR Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. 10657297

2000
dbSNP: rs80338844
rs80338844
SDHD
T 0.800 CausalMutation CLINVAR Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 11391796

2001
dbSNP: rs104894304
rs104894304
SDHD
G 0.700 CausalMutation CLINVAR Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. 11343322

2001
dbSNP: rs104894306
rs104894306
SDHD ; TIMM8B
T 0.700 CausalMutation CLINVAR Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. 11391798

2001
dbSNP: rs104894306
rs104894306
SDHD ; TIMM8B
T 0.700 CausalMutation CLINVAR The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. 11605159

2001
dbSNP: rs104894307
rs104894307
SDHD ; TIMM8B
T 0.700 CausalMutation CLINVAR Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 11391796

2001
dbSNP: rs1050032491
rs1050032491
SDHD
A 0.700 CausalMutation CLINVAR Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. 11391798

2001
dbSNP: rs387906358
rs387906358
SDHD
A 0.700 CausalMutation CLINVAR Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 11391796

2001
dbSNP: rs397514034
rs397514034
SDHD ; TIMM8B
A 0.700 CausalMutation CLINVAR Germline SDHD mutation in familial phaeochromocytoma. 11323050

2001
dbSNP: rs80338842
rs80338842
SDHD ; TIMM8B
A 0.700 CausalMutation CLINVAR Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 11391796

2001