PDE8B, phosphodiesterase 8B, 8622

N. diseases: 89; N. variants: 36
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918360
rs121918360
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C3280094
Disease:
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3
C 0.800 CausalMutation CLINVAR
dbSNP: rs878853157
rs878853157
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C4310808
Disease:
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs878853158
rs878853158
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C4310808
Disease:
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs121918360
rs121918360
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C3280094
Disease:
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3
0.800 GeneticVariation UNIPROT A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex. 18431404 2008
dbSNP: rs4704397
rs4704397
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C2242456
Disease:
thyroid function
A 0.800 GeneticVariation GWASCAT Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function. 18514160 2008
dbSNP: rs4704397
rs4704397
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0696098
Disease:
Blood thyroid stimulating hormone analysis
A 0.700 GeneticVariation GWASDB Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function. 18514160 2008
dbSNP: rs4704397
rs4704397
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0202230
Disease:
Thyroid stimulating hormone measurement
A 0.700 GeneticVariation GWASDB By genotyping 362,129 SNPs in 4,300 Sardinians, we identified a strong association (p = 1.3 x 10(-11)) between alleles of rs4704397 and circulating TSH levels; each additional copy of the minor A allele was associated with an increase of 0.13 muIU/ml in TSH. 18514160 2008
dbSNP: rs4704397
rs4704397
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C1997262
Disease:
Hypothyroidism in pregnancy
0.010 GeneticVariation BEFREE We aimed to assess whether genetic variation in TSH due to the rs4704397 genotype affects the number of individuals classified as having subclinical hypothyroidism in pregnancy. 19820008 2009
dbSNP: rs4704397
rs4704397
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C0271790
Disease:
Subclinical hypothyroidism
0.010 GeneticVariation BEFREE Genetic variation in TSH levels in pregnancy associated with the PDE8B rs4704397 genotype has implications for the number of women treated for subclinical hypothyroidism under current guidelines. 19820008 2009
dbSNP: rs2046045
rs2046045
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C2242456
Disease:
thyroid function
T 0.800 GeneticVariation GWASCAT Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. 22494929 2012
dbSNP: rs2046045
rs2046045
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C2242456
Disease:
thyroid function
T 0.800 GeneticVariation GWASDB Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. 22494929 2012
dbSNP: rs4704397
rs4704397
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C2242456
Disease:
thyroid function
0.800 GeneticVariation GWASDB Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. 22494929 2012
dbSNP: rs10036386
rs10036386
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C2242456
Disease:
thyroid function
0.700 GeneticVariation GWASDB Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. 22494929 2012
dbSNP: rs10037599
rs10037599
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C2242456
Disease:
thyroid function
0.700 GeneticVariation GWASDB Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. 22494929 2012
dbSNP: rs10056404
rs10056404
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C2242456
Disease:
thyroid function
0.700 GeneticVariation GWASDB Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. 22494929 2012
dbSNP: rs11950697
rs11950697
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C2242456
Disease:
thyroid function
0.700 GeneticVariation GWASDB Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. 22494929 2012
dbSNP: rs1351283
rs1351283
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C2242456
Disease:
thyroid function
0.700 GeneticVariation GWASDB Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. 22494929 2012
dbSNP: rs1351284
rs1351284
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C2242456
Disease:
thyroid function
0.700 GeneticVariation GWASDB Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. 22494929 2012
dbSNP: rs1382879
rs1382879
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C2242456
Disease:
thyroid function
0.700 GeneticVariation GWASDB Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. 22494929 2012
dbSNP: rs1479564
rs1479564
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C2242456
Disease:
thyroid function
0.700 GeneticVariation GWASDB Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. 22494929 2012
dbSNP: rs1479565
rs1479565
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C2242456
Disease:
thyroid function
0.700 GeneticVariation GWASDB Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. 22494929 2012
dbSNP: rs1479567
rs1479567
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C2242456
Disease:
thyroid function
0.700 GeneticVariation GWASDB Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. 22494929 2012
dbSNP: rs2061909
rs2061909
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C2242456
Disease:
thyroid function
0.700 GeneticVariation GWASDB Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. 22494929 2012
dbSNP: rs6867654
rs6867654
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C2242456
Disease:
thyroid function
0.700 GeneticVariation GWASDB Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. 22494929 2012
dbSNP: rs6885099
rs6885099
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
CUI: C2242456
Disease:
thyroid function
0.700 GeneticVariation GWASDB Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. 22494929 2012