SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1555455284 ACAN Health Risk Likely pathogenic —
RS1555455453 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555455456 PDIA3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS1555455457 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555455521 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555455618 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555455620 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555455726 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555455727 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555455776 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555455797 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555455815 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555455969 ACAN Health Risk Pathogenic —
RS1555455998 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1555456128 ACAN Health Risk Pathogenic Short stature and advanced bone age, with early-onset osteoarthritis
RS1555456139 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555456208 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1555456230 ACAN Health Risk Pathogenic Short stature and advanced bone age, Short stature and advanced bone age
RS1555456457 SPG11 Health Risk Pathogenic —
RS1555456661 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555456727 AP4E1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1555456744 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1555456994 MEIS2 Health Risk Pathogenic Cardiac malformation, cleft lip/palate
RS1555457446 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555457482 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1555457488 PKD1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Polycystic kidney disease
RS1555457492 ACAN Health Risk Conflicting classifications of pathogenicity —
RS1555457513 ACAN Health Risk Pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS1555457525 ACAN Health Risk Pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS1555457632 ACAN Health Risk Pathogenic Short stature and advanced bone age, with early-onset osteoarthritis
RS1555457638 ACAN Health Risk Likely pathogenic —
RS1555457807 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1555457841 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555457867 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555457878 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555457882 STRA6 Health Risk Likely pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS1555457919 STRA6 Health Risk Pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS1555458032 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555458171 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555458187 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555458189 VPS33B Health Risk Pathogenic —
RS1555458211 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555458223 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555458284 MEFV Health Risk Pathogenic —
RS1555458413 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1555458683 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1555458704 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1555458809 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555458815 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555458822 PALB2 Health Risk Pathogenic Breast neoplasm, Familial cancer of breast
RS1555458828 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555458891 PKD1 Health Risk Pathogenic —
RS1555459001 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555459056 PKD1 Health Risk Pathogenic —
RS1555459084 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease
RS1555459108 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1555459218 VPS33B Health Risk Likely pathogenic Arthrogryposis, renal dysfunction
RS1555459260 MYH11 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1555459345 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Hemangioma
RS1555459386 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555459404 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS1555459421 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555459513 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555459520 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555459528 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555459540 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555459553 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555459583 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555459599 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555459605 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555459610 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555459709 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555459710 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555459747 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555459925 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555459927 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555459934 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555459946 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555459949 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1555459954 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555459968 VPS33B Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS1555459994 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555459999 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555460007 PALB2 Health Risk Likely pathogenic —
RS1555460030 VPS33B Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS1555460231 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555460308 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555460315 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast neoplasm
RS1555460323 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555460325 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1555460328 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555460334 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group N
RS1555460348 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555460360 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555460407 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1555460410 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555460423 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555460431 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555460440 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555460442 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
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