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
RS2131308132 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation 1, Cerebral cavernous malformation 1
RS2131308345 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131308944 KRIT1 Health Risk Pathogenic —
RS2131309013 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation 1, Cerebral cavernous malformation
RS2131309179 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation 1, Cerebral cavernous malformation
RS2131309299 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131311231 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2131312223 TFR2 Health Risk Pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2131312371 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS2131313564 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2131313576 TFR2 Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS2131315142 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2131315805 KRIT1 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131316175 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131317641 SPTAN1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 5
RS2131318647 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2131318652 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2131320006 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2131320223 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2131320933 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2131320942 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2131321455 TRAPPC9 Health Risk Pathogenic Intellectual disability, autosomal recessive 13
RS2131321747 TRAPPC9 Health Risk Likely pathogenic —
RS2131325419 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex, Ogna type
RS2131325474 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2131325491 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Sarcoma
RS2131325903 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131326123 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131326255 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131326892 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131327564 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2131327802 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS2131327975 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2131328001 TFR2 Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS2131331144 VPS13A Health Risk Likely pathogenic —
RS2131331380 CUBN Health Risk Likely pathogenic Proteinuria, chronic benign
RS2131332247 VPS13A Health Risk Likely pathogenic —
RS2131332519 VPS13A Health Risk Pathogenic —
RS2131333059 ACTL6B Health Risk Likely pathogenic —
RS2131333638 ACTL6B Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2131334839 ACTL6B Health Risk Likely pathogenic Intellectual developmental disorder with severe speech and ambulation defects, Intellectual developmental disorder with severe speech and ambulation defects
RS2131334872 ACTL6B Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2131334898 ACTL6B Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 76
RS2131335747 ACTL6B Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2131335751 ACTL6B Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2131341713 SPTAN1 Health Risk Likely pathogenic Seizure, Seizure
RS2131347192 VPS13A Health Risk Pathogenic —
RS2131350326 VPS13A Health Risk Likely pathogenic —
RS2131350514 GNB2 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and dysmorphic facies, Neurodevelopmental disorder with hypotonia and dysmorphic facies
RS2131350517 GNB2 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and dysmorphic facies, Neurodevelopmental disorder with hypotonia and dysmorphic facies
RS2131355075 DHTKD1 Health Risk Likely pathogenic —
RS2131360489 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2131366543 CACNA1B Health Risk Likely pathogenic See cases, See cases
RS2131371963 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2131371975 VPS13A Health Risk Pathogenic —
RS2131372034 VPS13A Health Risk Pathogenic —
RS2131372085 VPS13A Health Risk Likely pathogenic —
RS2131376583 VPS13A Health Risk Pathogenic —
RS2131379218 XPA Health Risk Pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum group A
RS2131385503 GIGYF1 Health Risk Likely pathogenic GIGYF1-related disorder, GIGYF1-related disorder
RS2131392225 PLAA Health Risk Likely pathogenic Neurodevelopmental disorder with progressive microcephaly, spasticity
RS2131393093 XPA Health Risk Likely pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum
RS2131393431 XPA Health Risk Likely pathogenic —
RS2131394444 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2131394544 VPS13A Health Risk Pathogenic —
RS2131396482 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS2131400036 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS2131401746 AK1 Health Risk Pathogenic Hemolytic anemia due to adenylate kinase deficiency, Adenylate kinase deficiency
RS2131403056 SLC34A3 Health Risk Pathogenic —
RS2131405964 XPA Health Risk Pathogenic —
RS2131411372 XPA Health Risk Pathogenic —
RS2131411756 XPA Health Risk Pathogenic —
RS2131415051 SLC34A3 Health Risk Pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS2131416218 SLC34A3 Health Risk Pathogenic —
RS2131417221 SLC34A3 Health Risk Pathogenic —
RS2131422085 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS2131423939 SLC34A3 Health Risk Pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS2131425047 SLC34A3 Health Risk Pathogenic —
RS2131425175 SLC34A3 Health Risk Pathogenic —
RS2131427489 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2131427592 VPS13A Health Risk Pathogenic —
RS2131428041 SETX Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS2131429676 SETX Health Risk Likely pathogenic —
RS2131429839 VPS13A Health Risk Likely pathogenic —
RS2131430377 CUBN Health Risk Conflicting classifications of pathogenicity Proteinuria, Imerslund-Grasbeck syndrome type 1
RS2131431481 ZNF462 Health Risk Pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2131432786 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2131433122 TUBB4B Health Risk Likely pathogenic —
RS2131435194 TUBB4B Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis with early-onset deafness, Leber congenital amaurosis with early-onset deafness
RS2131435199 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation 1, Cerebral cavernous malformation
RS2131436525 SHOC1 Health Risk Pathogenic Spermatogenic failure 75, Spermatogenic failure 75
RS2131437372 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131439491 VPS13A Health Risk Pathogenic —
RS2131439679 VPS13A Health Risk Pathogenic —
RS2131439817 VPS13A Health Risk Pathogenic —
RS2131440608 SETX Health Risk Pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS2131441761 CARD9 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS2131443090 ABCA2 Health Risk Likely pathogenic Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia
RS2131443885 VPS13A Health Risk Pathogenic —
RS2131443924 CARD9 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
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