SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS879255568 ARL2BP Health Risk Pathogenic Retinitis pigmentosa with or without situs inversus, Retinitis pigmentosa
RS879255569 BCAP31 Health Risk Pathogenic Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome, Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
RS879255570 CTCF Health Risk Pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS879255571 CTCF Health Risk Pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS879255572 ARL6IP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 61, Hereditary spastic paraplegia 61
RS879255573 GRHL3 Health Risk Pathogenic Van der Woude syndrome 2, Van der Woude syndrome 2
RS879255574 ASPH Health Risk Pathogenic Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
RS879255575 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS879255576 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS879255578 CAV1 Health Risk Pathogenic Partial lipodystrophy, congenital cataracts
RS879255579 ALDH6A1 Health Risk Pathogenic Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
RS879255580 CLCN4 Health Risk Pathogenic CLCN4-related disorder, CLCN4-related disorder
RS879255581 CLCN4 Health Risk Pathogenic CLCN4-related disorder, CLCN4-related disorder
RS879255582 CLCN4 Health Risk Pathogenic CLCN4-related disorder, CLCN4-related disorder
RS879255583 CLCN4 Health Risk Pathogenic CLCN4-related disorder, Inborn genetic diseases
RS879255584 CLCN4 Health Risk Pathogenic CLCN4-related disorder, Intellectual disability
RS879255585 CLCN4 Health Risk Conflicting classifications of pathogenicity CLCN4-related disorder, Intellectual disability
RS879255586 CLCN4 Health Risk Pathogenic CLCN4-related disorder, CLCN4-related disorder
RS879255587 PTCHD1 Health Risk risk factor Autism, susceptibility to
RS879255589 TRU-TCA1-1 Health Risk Pathogenic Thyroid hormone metabolism, abnormal 1
RS879255590 CLCN4 Health Risk Conflicting classifications of pathogenicity CLCN4-related disorder, CLCN4-related disorder
RS879255591 CLCN4 Health Risk Conflicting classifications of pathogenicity CLCN4-related disorder, CLCN4-related disorder
RS879255592 OPA1 Health Risk Pathogenic Optic atrophy with or without deafness, ophthalmoplegia
RS879255593 OPA1 Health Risk Pathogenic/Likely pathogenic Abortive cerebellar ataxia, Retinal dystrophy
RS879255595 OPA1 Health Risk Pathogenic Abortive cerebellar ataxia, Autosomal dominant optic atrophy classic form
RS879255596 NEDD4L Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay
RS879255597 NEDD4L Health Risk Pathogenic/Likely pathogenic Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay
RS879255598 NEDD4L Health Risk Pathogenic Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay
RS879255599 NEDD4L Health Risk Pathogenic Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay
RS879255600 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS879255601 TDP2 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 23
RS879255602 NANS Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Genevieve type
RS879255603 SFRP4 Health Risk Pathogenic Pyle metaphyseal dysplasia, Pyle metaphyseal dysplasia
RS879255604 BGN Health Risk Pathogenic X-linked spondyloepimetaphyseal dysplasia, X-linked spondyloepimetaphyseal dysplasia
RS879255605 BGN Health Risk Likely pathogenic X-linked spondyloepimetaphyseal dysplasia, X-linked spondyloepimetaphyseal dysplasia
RS879255606 LARS2 Health Risk Pathogenic Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
RS879255607 PMVK Health Risk Pathogenic Porokeratosis 1, Mibelli type
RS879255608 GLIS3 Health Risk Pathogenic Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS879255609 GLIS3 Health Risk Pathogenic Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS879255610 DOCK6 Health Risk Pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS879255611 EDA Health Risk Pathogenic Tooth agenesis, selective
RS879255612 TOR1AIP2;LOC112577517;TOR1AIP1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS879255613 CTNS Health Risk Pathogenic Cystinosis, Cystinosis
RS879255614 CTNS Health Risk Pathogenic Nephropathic cystinosis, Ocular cystinosis
RS879255615 CTNS Health Risk Pathogenic Nephropathic cystinosis, Ocular cystinosis
RS879255616 CTNS Health Risk Likely pathogenic Cystinosis, Nephropathic cystinosis
RS879255617 DGUOK Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
RS879255618 SIN3A Health Risk Pathogenic SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation
RS879255619 SIN3A Health Risk Pathogenic SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation
RS879255620 SIN3A Health Risk Pathogenic SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation
RS879255621 SIN3A Health Risk Pathogenic SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation
RS879255622 TRIO Health Risk Pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS879255623 TRIO Health Risk Pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS879255624 TRIO Health Risk Pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS879255625 TRIO Health Risk Pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS879255626 TRIO Health Risk Pathogenic/Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, TRIO-related disorder
RS879255627 TRIO Health Risk Pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS879255628 TRIO Health Risk Pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Intellectual developmental disorder
RS879255629 EDARADD Health Risk Likely pathogenic ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE
RS879255630 DNAJC6 Health Risk Pathogenic Parkinson disease 19B, early-onset
RS879255631 GUF1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 40
RS879255632 CDC45 Health Risk Likely pathogenic Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7
RS879255633 CDC45 Health Risk Likely pathogenic Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7
RS879255634 B4GALT7 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome progeroid type, Inborn genetic diseases
RS879255635 ZBTB20 Health Risk Likely pathogenic —
RS879255636 PRDM12 Health Risk Pathogenic Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
RS879255637 PRDM12 Health Risk Pathogenic Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
RS879255638 PRDM12 Health Risk Pathogenic Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
RS879255639 FLNC Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, familial restrictive
RS879255641 GANAB Health Risk Pathogenic Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS879255642 GANAB Health Risk Pathogenic POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE, POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE
RS879255643 GANAB Health Risk Likely pathogenic POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE, Polycystic kidney disease 3 with or without polycystic liver disease
RS879255644 NR1H4 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS879255645 VAC14 Health Risk Pathogenic Striatonigral degeneration, childhood-onset
RS879255646 AP3D1 Health Risk Pathogenic Hermansky-Pudlak syndrome 10, Hermansky-Pudlak syndrome 10
RS879255647 NAXE Health Risk Pathogenic Encephalopathy, progressive
RS879255648 SEC61A1 Health Risk Pathogenic Hyperuricemic nephropathy, familial juvenile type 4
RS879255649 CCDC88A Health Risk Pathogenic PEHO-like syndrome, PEHO-like syndrome
RS879255651 MME Health Risk Pathogenic Spinocerebellar ataxia 43, Spinocerebellar ataxia 43
RS879255652 SCN8A Health Risk Pathogenic Seizures, benign familial infantile
RS879255653 CWF19L1 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
RS879255654 CWF19L1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
RS879255655 DYNC2LI1 Health Risk Pathogenic Short-rib thoracic dysplasia 15 with polydactyly, Asphyxiating thoracic dystrophy 1
RS879255656 DYNC2LI1 Health Risk Pathogenic Short-rib thoracic dysplasia 15 with polydactyly, Asphyxiating thoracic dystrophy 1
RS879255657 PNPT1 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13
RS879255658 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS879255660 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1
RS879255661 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS879255662 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1
RS879255663 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS879255664 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS879255665 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS879255666 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS879255667 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS879255668 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS879255669 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS879255670 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS879255672 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS879255673 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS879255675 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
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