Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7587928
rs7587928
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C0200633
Disease:
Neutrophil count (procedure)
0.800 GeneticVariation GWASDB Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. 21507922 2011
dbSNP: rs7587928
rs7587928
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C0200633
Disease:
Neutrophil count (procedure)
0.800 GeneticVariation GWASCAT Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. 21507922 2011
dbSNP: rs1057519300
rs1057519300
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C4284592
Disease:
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519301
rs1057519301
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C4284592
Disease:
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519302
rs1057519302
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C4284592
Disease:
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
CA 0.700 CausalMutation CLINVAR
dbSNP: rs1131692229
rs1131692229
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C1836542
Disease:
Depressed nasal bridge
C 0.700 CausalMutation CLINVAR
dbSNP: rs1131692229
rs1131692229
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C4021866
Disease:
obsolete Abnormal heart morphology
C 0.700 CausalMutation CLINVAR
dbSNP: rs1131692229
rs1131692229
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C0678230
Disease:
Congenital Epicanthus
C 0.700 CausalMutation CLINVAR
dbSNP: rs1131692229
rs1131692229
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C0042798
Disease:
Low Vision
C 0.700 CausalMutation CLINVAR
dbSNP: rs1131692229
rs1131692229
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C0557874
Disease:
Global developmental delay
C 0.700 CausalMutation CLINVAR
dbSNP: rs1131692229
rs1131692229
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C1837260
Disease:
Prominent forehead
C 0.700 CausalMutation CLINVAR
dbSNP: rs1131692229
rs1131692229
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C4284592
Disease:
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
C 0.700 CausalMutation CLINVAR
dbSNP: rs1131692229
rs1131692229
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C1853241
Disease:
Flat face
C 0.700 CausalMutation CLINVAR
dbSNP: rs1131692229
rs1131692229
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C0018808
Disease:
Heart murmur
C 0.700 CausalMutation CLINVAR
dbSNP: rs1131692229
rs1131692229
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C1398312
Disease:
Narrow palate
C 0.700 CausalMutation CLINVAR
dbSNP: rs1131692229
rs1131692229
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C1858120
Disease:
Generalized hypotonia
C 0.700 CausalMutation CLINVAR
dbSNP: rs1553305080
rs1553305080
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C4284592
Disease:
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
A 0.700 GeneticVariation CLINVAR
dbSNP: rs201478192
rs201478192
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C0027022
Disease:
Myeloproliferative disease
0.070 GeneticVariation BEFREE Calreticulin (CALR) gene mutations are currently recommended as biomarkers in diagnosis of patients with myeloproliferative neoplasms (MPN) with Jak2 V617F negative phenotype. 31248375 2019
dbSNP: rs201478192
rs201478192
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C1292778
Disease:
Chronic myeloproliferative disorder
0.070 GeneticVariation BEFREE Calreticulin (CALR) gene mutations are currently recommended as biomarkers in diagnosis of patients with myeloproliferative neoplasms (MPN) with Jak2 V617F negative phenotype. 31248375 2019
dbSNP: rs201478192
rs201478192
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C0027022
Disease:
Myeloproliferative disease
0.070 GeneticVariation BEFREE Prevalence of the frequency of JAK2 (V617F) mutation in different myeloproliferative disorders in Egyptian patients. 26617890 2015
dbSNP: rs201478192
rs201478192
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C0027022
Disease:
Myeloproliferative disease
0.070 GeneticVariation BEFREE JAK2 V617F mutation is a molecular marker for myeloproliferative neoplasms (MPNs). 25015634 2014
dbSNP: rs201478192
rs201478192
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C1292778
Disease:
Chronic myeloproliferative disorder
0.070 GeneticVariation BEFREE Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, polycythemia vera and primary myelofibrosis are associated with JAK2 (V617F) mutations. 24475114 2014
dbSNP: rs201478192
rs201478192
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C1292778
Disease:
Chronic myeloproliferative disorder
0.070 GeneticVariation BEFREE The JAK2-V617F mutation is prevalent in almost all patients with MPNs and has become a valuable biomarker for diagnosis of MPNs. 24362471 2014
dbSNP: rs201478192
rs201478192
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C0027022
Disease:
Myeloproliferative disease
0.070 GeneticVariation BEFREE Most cases of BCR-ABL1-negative myeloproliferative neoplasms (MPNs), essential thrombocythemia, polycythemia vera and primary myelofibrosis are associated with JAK2 (V617F) mutations. 24475114 2014
dbSNP: rs201478192
rs201478192
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C1292778
Disease:
Chronic myeloproliferative disorder
0.070 GeneticVariation BEFREE JAK2 V617F mutation is a molecular marker for myeloproliferative neoplasms (MPNs). 25015634 2014