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
RS80356492 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS80356494 FLNB Health Risk Pathogenic Boomerang dysplasia, Boomerang dysplasia
RS80356503 FLNB Health Risk Pathogenic Larsen syndrome, Boomerang dysplasia
RS80356504 FLNB Health Risk Likely pathogenic Larsen syndrome, See cases
RS80356506 FLNB Health Risk Likely pathogenic Larsen syndrome, Connective tissue disorder
RS80356508 FLNB Health Risk Pathogenic Larsen syndrome, FLNB-related disorder
RS80356509 FLNB Health Risk Pathogenic Larsen syndrome, Larsen syndrome
RS80356511 FLNB Health Risk Likely pathogenic Larsen syndrome, Larsen syndrome
RS80356513 FLNB Health Risk Pathogenic Larsen syndrome, Larsen syndrome
RS80356516 FLNB Health Risk Pathogenic Larsen syndrome, Larsen syndrome
RS80356517 FLNB Health Risk Pathogenic Spondylocarpotarsal synostosis syndrome, FLNB-Related Spectrum Disorders
RS80356519 FLNB Health Risk Pathogenic Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS80356520 FLNB Health Risk Likely pathogenic Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS80356521 FLNB Health Risk Pathogenic Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS80356523 OPA3 Health Risk Pathogenic 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS80356524 OPA3 Health Risk Pathogenic Optic atrophy 3, Optic atrophy 3
RS80356525 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS80356526 OPA3 Health Risk Pathogenic 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3
RS80356528 OPA1 Health Risk Pathogenic Optic atrophy, Optic atrophy
RS80356529 OPA1 Health Risk Pathogenic Optic atrophy with or without deafness, ophthalmoplegia
RS80356530 OPA1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant optic atrophy classic form, Abortive cerebellar ataxia
RS80356531 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS80356532 ATP1A3 Health Risk Pathogenic Dystonia 12, Alternating hemiplegia of childhood 2
RS80356533 ATP1A3 Health Risk Pathogenic/Likely pathogenic Dystonia 12, Dystonia 12
RS80356534 ATP1A3 Health Risk Pathogenic Dystonia 12, Alternating hemiplegia of childhood 2
RS80356535 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS80356536 ATP1A3 Health Risk Pathogenic Dystonia 12, Dystonia 12
RS80356537 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Alternating hemiplegia of childhood 2
RS80356538 TTBK2 Health Risk Pathogenic Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11
RS80356539 TTBK2 Health Risk Pathogenic Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11
RS80356540 TWNK Health Risk Pathogenic/Likely pathogenic Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia
RS80356542 TWNK Health Risk Pathogenic Infantile onset spinocerebellar ataxia, See cases
RS80356543 TWNK Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS80356544 TWNK Health Risk Pathogenic Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia
RS80356547 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases
RS80356553 VCAN Health Risk Pathogenic Wagner disease, Wagner disease
RS80356554 VCAN Health Risk Pathogenic Wagner disease, Stickler syndrome
RS80356555 VCAN Health Risk Pathogenic Wagner disease, Retinal dystrophy
RS80356556 VCAN Health Risk Pathogenic Wagner disease, Wagner disease
RS80356559 TIMM8A Health Risk Pathogenic Deafness dystonia syndrome, Deafness dystonia syndrome
RS80356560 TIMM8A Health Risk Likely pathogenic Deafness dystonia syndrome, Deafness dystonia syndrome
RS80356573 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS80356576 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS80356584 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS80356585 OTOF Health Risk Pathogenic OTOF-related disorder, Nonsyndromic genetic hearing loss
RS80356586 OTOF Health Risk Likely pathogenic Auditory neuropathy, autosomal recessive
RS80356587 OTOF Health Risk Pathogenic Auditory neuropathy, autosomal recessive
RS80356590 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Rare genetic deafness
RS80356591 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Rare genetic deafness
RS80356592 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS80356593 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Rare genetic deafness
RS80356594 OTOF Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS80356595 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS80356596 OTOF Health Risk Pathogenic Auditory neuropathy, autosomal recessive
RS80356598 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS80356600 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Rare genetic deafness
RS80356601 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS80356602 OTOF Health Risk Pathogenic Auditory neuropathy, autosomal recessive
RS80356605 OTOF Health Risk Pathogenic/Likely pathogenic Auditory neuropathy, autosomal recessive
RS80356610 KCNJ11 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS80356611 KCNJ11 Health Risk Likely risk allele Permanent neonatal diabetes mellitus, Diabetes mellitus
RS80356613 KCNJ11 Health Risk Pathogenic Diabetes mellitus, transient neonatal
RS80356616 KCNJ11 Health Risk Pathogenic Diabetes mellitus, permanent neonatal 2
RS80356621 KCNJ11 Health Risk Likely risk allele Permanent neonatal diabetes mellitus, Diabetes mellitus
RS80356622 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Diabetes mellitus
RS80356624 KCNJ11 Health Risk Pathogenic Permanent neonatal diabetes mellitus, Diabetes mellitus
RS80356625 KCNJ11 Health Risk Pathogenic Permanent neonatal diabetes mellitus, Diabetes mellitus
RS80356634 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Diabetes mellitus
RS80356637 ABCC8 Health Risk Pathogenic/Likely pathogenic Diabetes mellitus, permanent neonatal 3
RS80356642 ABCC8 Health Risk Pathogenic Permanent neonatal diabetes mellitus, Diabetes mellitus
RS80356643 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hyperparathyroidism 1
RS80356649 CDC73 Health Risk Pathogenic Hyperparathyroidism 2 with jaw tumors, Parathyroid carcinoma
RS80356650 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Hyperparathyroidism 2 with jaw tumors
RS80356651 ABCC8 Health Risk Pathogenic Permanent neonatal diabetes mellitus, Diabetes mellitus
RS80356653 ABCC8 Health Risk Pathogenic Permanent neonatal diabetes mellitus, Diabetes mellitus
RS80356654 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Permanent neonatal diabetes mellitus
RS80356655 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Permanent neonatal diabetes mellitus 1
RS80356661 PDX1 Health Risk Pathogenic; risk factor Pancreatic agenesis 1, Diabetes mellitus type 2
RS80356662 PDX1 Health Risk Pathogenic Pancreatic agenesis 1, Pancreatic agenesis 1
RS80356663 INS Health Risk Likely pathogenic Permanent neonatal diabetes mellitus, Diabetes mellitus
RS80356664 INS;INS-IGF2 Health Risk Pathogenic/Likely pathogenic Permanent neonatal diabetes mellitus, Neonatal diabetes mellitus
RS80356666 INS Health Risk Pathogenic/Likely risk allele Permanent neonatal diabetes mellitus, Neonatal diabetes mellitus
RS80356668 INS Health Risk Likely pathogenic/Likely risk allele Hyperproinsulinemia, Permanent neonatal diabetes mellitus
RS80356669 INS Health Risk Pathogenic/Likely pathogenic Permanent neonatal diabetes mellitus, Diabetes mellitus
RS80356671 INS Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Diabetes mellitus
RS80356672 INS Health Risk Likely risk allele Permanent neonatal diabetes mellitus, Diabetes mellitus
RS80356674 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS80356675 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS80356676 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS80356677 NTRK1 Health Risk Pathogenic/Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS80356678 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS80356679 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS80356680 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Amelogenesis imperfecta type 1A
RS80356681 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS80356682 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS80356683 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Epidermolysis bullosa
RS80356685 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS80356686 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS80356687 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS80356688 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
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