SH2B3, SH2B adaptor protein 3, 10019

N. diseases: 212; N. variants: 21
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148636776
rs148636776
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0038002
Disease:
Splenomegaly
A 0.700 CausalMutation CLINVAR
dbSNP: rs148636776
rs148636776
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0085096
Disease:
Peripheral Vascular Diseases
A 0.700 CausalMutation CLINVAR
dbSNP: rs148636776
rs148636776
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C4551637
Disease:
Erythrocytosis familial, 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs148636776
rs148636776
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0027022
Disease:
Myeloproliferative disease
A 0.700 CausalMutation CLINVAR
dbSNP: rs148636776
rs148636776
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0917798
Disease:
Cerebral Ischemia
A 0.700 CausalMutation CLINVAR
dbSNP: rs148636776
rs148636776
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C1367972
Disease:
Phlebitis and thrombophlebitis
A 0.700 CausalMutation CLINVAR
dbSNP: rs148636776
rs148636776
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C3887485
Disease:
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs148636776
rs148636776
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0033774
Disease:
Pruritus
A 0.700 CausalMutation CLINVAR
dbSNP: rs148636776
rs148636776
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0003862
Disease:
Arthralgia
A 0.700 CausalMutation CLINVAR
dbSNP: rs148636776
rs148636776
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0494479
Disease:
Other headache syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs148636776
rs148636776
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0020538
Disease:
Hypertensive disease
A 0.700 CausalMutation CLINVAR
dbSNP: rs148636776
rs148636776
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0546817
Disease:
Fluid overload
A 0.700 CausalMutation CLINVAR
dbSNP: rs148636776
rs148636776
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0024528
Disease:
Malaise and fatigue
A 0.700 CausalMutation CLINVAR
dbSNP: rs148636776
rs148636776
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C3277671
Disease:
THROMBOCYTHEMIA 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs148636776
rs148636776
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0027051
Disease:
Myocardial Infarction
A 0.700 CausalMutation CLINVAR
dbSNP: rs148636776
rs148636776
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0005779
Disease:
Blood Coagulation Disorders
A 0.700 CausalMutation CLINVAR
dbSNP: rs148636776
rs148636776
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0000737
Disease:
Abdominal Pain
A 0.700 CausalMutation CLINVAR
dbSNP: rs202080221
rs202080221
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3
CUI: C3277671
Disease:
THROMBOCYTHEMIA 1
C 0.700 CausalMutation CLINVAR
dbSNP: rs202080221
rs202080221
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3
CUI: C4551637
Disease:
Erythrocytosis familial, 1
T 0.700 GeneticVariation CLINVAR
dbSNP: rs587776885
rs587776885
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3
CUI: C0001815
Disease:
Primary Myelofibrosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs11065904
rs11065904
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0005845
Disease:
Blood urea nitrogen measurement
A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0009402
Disease:
Colorectal Carcinoma
0.730 GeneticVariation BEFREE A combined analysis revealed one genome-wide significant polymorphism, rs3184504, on chromosome 12q24 (OR = 1.10, P = 7.23 × 10(-9)) with shared effects on CRC and EC risk. 26621817 2015
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0476089
Disease:
Endometrial Carcinoma
0.710 GeneticVariation BEFREE A combined analysis revealed one genome-wide significant polymorphism, rs3184504, on chromosome 12q24 (OR = 1.10, P = 7.23 × 10(-9)) with shared effects on CRC and EC risk. 26621817 2015
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE A combined analysis revealed one genome-wide significant polymorphism, rs3184504, on chromosome 12q24 (OR = 1.10, P = 7.23 × 10(-9)) with shared effects on CRC and EC risk. 26621817 2015
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0009402
Disease:
Colorectal Carcinoma
C 0.730 GeneticVariation GWASCAT A combined analysis revealed one genome-wide significant polymorphism, rs3184504, on chromosome 12q24 (OR = 1.10, P = 7.23 × 10(-9)) with shared effects on CRC and EC risk. 26621817 2015