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
RS1571783742 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinal dystrophy
RS1571796718 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1571801514 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1571801564 USH2A Health Risk Likely pathogenic —
RS1571801788 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinal dystrophy
RS1571803654 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS1571804630 LAMB3 Health Risk Pathogenic —
RS1571804681 LAMB3 Health Risk Pathogenic —
RS1571805164 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1571805235 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571810782 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, LAMB3-related disorder
RS1571817103 MPZ Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1571817146 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1571817154 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1571817225 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1571817544 MPZ Health Risk Likely pathogenic —
RS1571817911 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1571817966 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1571818007 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Neuropathy
RS1571818248 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Intellectual disability
RS1571818312 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, Inborn genetic diseases
RS1571818339 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1571818614 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1571818632 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1571818721 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1571818775 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 1B
RS1571818800 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1571818819 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1571818953 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1571819084 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1571819182 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1571819324 MPZ Health Risk Likely pathogenic —
RS1571819375 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1571819890 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1571819906 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1571819946 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1571819964 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1571819975 MPZ Health Risk Likely pathogenic Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 1B
RS1571820049 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Roussy-Lévy syndrome
RS1571820067 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1571820092 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS1571820100 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1571820143 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1571820161 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1571820186 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1571820317 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1B
RS1571820401 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1571821003 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS1571821161 TGFB2 Health Risk Likely pathogenic —
RS1571825459 VPS45 Health Risk Conflicting classifications of pathogenicity Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
RS1571844539 ARF1 Health Risk Likely pathogenic Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
RS1571845061 IARS2 Health Risk Pathogenic Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
RS1571848166 CRB1 Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS1571848659 CRB1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1571848688 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1571848744 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis, Retinal dystrophy
RS1571848855 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS1571851717 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS1571863769 IARS2 Health Risk Pathogenic Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
RS1571865049 PTPRC Health Risk Pathogenic Immunodeficiency 105, Immunodeficiency 105
RS1571865562 IARS2 Health Risk Pathogenic Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
RS1571869120 SDHC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS1571869304 SDHC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS1571876788 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1571878277 CRB1 Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 8
RS1571880832 PTPRC Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1571880941 PTPRC Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1571881557 SNX27 Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1571889991 SDHC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1571890344 SDHC Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS1571892193 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1571892196 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Alpha-actinopathy
RS1571892209 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1571892703 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1571892988 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1571893145 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1571893319 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1571893383 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1571893783 ACTA1 Health Risk Likely pathogenic —
RS1571893814 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Congenital myopathy
RS1571893878 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Alpha-actinopathy
RS1571893885 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1571894217 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Alpha-actinopathy
RS1571897130 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1571898957 SDHC Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS1571899223 SDHC Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS1571899229 SDHC Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS1571901213 TGFB2 Health Risk Pathogenic —
RS1571902862 TGFB2 Health Risk Pathogenic —
RS1571904218 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS1571904338 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS1571907365 GJC2 Health Risk Pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS1571907430 GJC2 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Intellectual disability
RS1571908056 GJC2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS1571908452 GJC2 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hypomyelinating leukodystrophy 2
RS1571918251 IBA57 Health Risk Pathogenic Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3
RS1571918954 IBA57 Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 3, Multiple mitochondrial dysfunctions syndrome 3
RS1571928405 USH2A Health Risk Pathogenic —
RS1571929573 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS1571936130 USH2A Health Risk Pathogenic —
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