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
RS1555723797 ODAD3 Health Risk Pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS1555724066 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS1555724108 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555725014 WDR62 Health Risk Pathogenic —
RS1555725058 NOTCH3 Health Risk Pathogenic —
RS1555725170 NOTCH3 Health Risk Likely pathogenic —
RS1555725221 COG1 Health Risk Likely pathogenic —
RS1555725363 COG1 Health Risk Likely pathogenic —
RS1555725707 PRKCSH Health Risk Pathogenic Polycystic liver disease 1, Polycystic liver disease 1
RS1555725969 UBA2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555726849 GTPBP3 Health Risk Pathogenic Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23
RS1555727493 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS1555727841 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1555727930 NOTCH3 Health Risk Pathogenic —
RS1555727938 NOTCH3 Health Risk Pathogenic NOTCH3-related disorder, NOTCH3-related disorder
RS1555727942 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS1555727944 NOTCH3 Health Risk Pathogenic NOTCH3-related disorder, NOTCH3-related disorder
RS1555727960 NOTCH3 Health Risk Pathogenic —
RS1555728297 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555728319 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555728701 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555728814 NOTCH3 Health Risk Pathogenic —
RS1555728898 NOTCH3 Health Risk Pathogenic —
RS1555728965 NOTCH3 Health Risk Pathogenic Migraine, Tension-type headache
RS1555728968 PRKCSH Health Risk Pathogenic Polycystic liver disease 1, Polycystic liver disease 1
RS1555728990 PRKCSH Health Risk Pathogenic Polycystic liver disease 1, Polycystic liver disease 1
RS1555729045 KMT2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555729064 NOTCH3 Health Risk Pathogenic/Likely pathogenic —
RS1555729068 NOTCH3 Health Risk Pathogenic —
RS1555729070 NOTCH3 Health Risk Pathogenic —
RS1555729105 NOTCH3 Health Risk Pathogenic/Likely pathogenic —
RS1555729346 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS1555729405 NOTCH3 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1555729451 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS1555729452 NOTCH3 Health Risk Pathogenic NOTCH3-related disorder, NOTCH3-related disorder
RS1555729455 NOTCH3 Health Risk Pathogenic 7 conditions, 7 conditions
RS1555729468 NOTCH3 Health Risk Pathogenic —
RS1555729477 NOTCH3 Health Risk Pathogenic/Likely pathogenic —
RS1555729486 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS1555729503 UBA2 Health Risk Pathogenic Inborn genetic diseases, ACCES syndrome
RS1555729510 NOTCH3 Health Risk Pathogenic/Likely pathogenic —
RS1555729534 NOTCH3 Health Risk Likely pathogenic —
RS1555729554 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS1555729584 NOTCH3 Health Risk Pathogenic Vascular dementia, Vascular dementia
RS1555729589 NOTCH3 Health Risk Likely pathogenic Lateral meningocele syndrome, Cerebral arteriopathy
RS1555729604 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS1555729610 NOTCH3 Health Risk Pathogenic —
RS1555729615 NOTCH3 Health Risk Pathogenic/Likely pathogenic —
RS1555729827 KMT2B Health Risk Likely pathogenic —
RS1555730069 KMT2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555730159 OPA3 Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS1555730176 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1555730177 NOTCH3 Health Risk Pathogenic —
RS1555730187 NOTCH3 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1555730188 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1555730189 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1555730197 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebral arteriopathy
RS1555730204 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1555730209 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555730283 TICAM1 Health Risk risk factor Herpes simplex encephalitis, susceptibility to
RS1555730801 CACNA1A Health Risk Pathogenic —
RS1555730878 CACNA1A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 42
RS1555730902 CACNA1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555730957 KMT2B Health Risk Pathogenic —
RS1555731122 UBA2 Health Risk Pathogenic —
RS1555731178 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555731819 KMT2B Health Risk Likely pathogenic Dystonia 28, childhood-onset
RS1555731828 KMT2B Health Risk Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
RS1555731976 KMT2B Health Risk Pathogenic Dystonia 28, childhood-onset
RS1555731980 KMT2B Health Risk Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
RS1555731992 CACNA1A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555732032 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555732204 DCC Health Risk Pathogenic —
RS1555732431 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555732528 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555732564 KMT2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555732939 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS1555732963 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS1555732987 KMT2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555733519 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1555733773 LGI4 Health Risk Likely pathogenic —
RS1555734052 BST2 Health Risk association HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS
RS1555734136 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1555734356 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555734445 KMT2B Health Risk Pathogenic —
RS1555734513 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555734800 RNASEH2A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555734834 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1555734904 STK11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555734923 KMT2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555734932 LGI4 Health Risk Likely pathogenic Arthrogryposis multiplex congenita 1, neurogenic
RS1555735001 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1555735008 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1555735014 STK11 Health Risk Pathogenic/Likely pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1555735080 STK11 Health Risk Likely pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1555735252 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1555735545 FKRP Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS1555736246 INSR Health Risk Likely pathogenic —
RS1555736262 CACNA1A Health Risk Likely pathogenic —
RS1555736532 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
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