Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4402960
rs4402960
Diabetes Mellitus, Non-Insulin-Dependent
T 1.000 SusceptibilityMutation CLINVAR

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 GeneticVariation UNIPROT

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation UNIPROT

dbSNP: rs13266634
rs13266634
Diabetes Mellitus, Non-Insulin-Dependent
T 1.000 SusceptibilityMutation CLINVAR

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 GeneticVariation CLINVAR

dbSNP: rs77931234
rs77931234
Medium-chain acyl-coenzyme A dehydrogenase deficiency
C 0.900 CausalMutation CLINVAR

dbSNP: rs77375493
rs77375493
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
T 0.900 CausalMutation CLINVAR

dbSNP: rs77375493
rs77375493
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
T 0.900 CausalMutation CLINVAR

dbSNP: rs75996173
rs75996173
RET
Multiple Endocrine Neoplasia Type 2a
T 0.900 CausalMutation CLINVAR

dbSNP: rs75996173
rs75996173
RET
Multiple Endocrine Neoplasia Type 2a
C 0.900 CausalMutation CLINVAR

dbSNP: rs74315408
rs74315408
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
A 0.900 CausalMutation CLINVAR

dbSNP: rs74315401
rs74315401
Gerstmann-Straussler-Scheinker Disease
T 0.900 CausalMutation CLINVAR

dbSNP: rs63751438
rs63751438
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
T 0.900 CausalMutation CLINVAR

dbSNP: rs61816761
rs61816761
CUI: C0013595
Disease: Eczema
Eczema
A 0.900 CausalMutation CLINVAR

dbSNP: rs4647924
rs4647924
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
G 0.900 CausalMutation CLINVAR

dbSNP: rs4149584
rs4149584
TNF receptor-associated periodic fever syndrome (TRAPS)
T 0.900 GeneticVariation CLINVAR

dbSNP: rs4149584
rs4149584
TNF receptor-associated periodic fever syndrome (TRAPS)
G 0.900 CausalMutation CLINVAR

dbSNP: rs4149584
rs4149584
TNF receptor-associated periodic fever syndrome (TRAPS)
T 0.900 CausalMutation CLINVAR

dbSNP: rs28933979
rs28933979
TTR
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
C 0.900 CausalMutation CLINVAR

dbSNP: rs28933385
rs28933385
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
A 0.900 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
C 0.900 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
A 0.900 CausalMutation CLINVAR

dbSNP: rs267606982
rs267606982
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
AT 0.900 CausalMutation CLINVAR

dbSNP: rs2476601
rs2476601
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.900 GeneticVariation UNIPROT

dbSNP: rs2435357
rs2435357
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
C 0.900 SusceptibilityMutation CLINVAR