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
RS2503543085 ORAI1 Health Risk Conflicting classifications of pathogenicity Myopathy, tubular aggregate
RS2503543510 ORAI1 Health Risk Likely pathogenic Combined immunodeficiency due to ORAI1 deficiency, Myopathy
RS2503544532 ORAI1 Health Risk Likely pathogenic —
RS2503547380 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503548183 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503548478 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503548576 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503549007 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503550047 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503562017 TMEM260 Health Risk Pathogenic Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
RS2503565184 DDHD1 Health Risk Pathogenic Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
RS2503570171 SPTLC2 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS2503574858 DDHD1 Health Risk Pathogenic Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
RS2503578399 NBEA Health Risk Likely pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS2503581243 NALCN Health Risk Pathogenic —
RS2503592299 NBEA Health Risk Pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS2503604772 TMEM260 Health Risk Pathogenic Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
RS2503605066 SIX6 Health Risk Likely pathogenic —
RS2503608451 TSHR Health Risk Likely pathogenic —
RS2503608613 TSHR Health Risk Likely pathogenic TSHR-related disorder, TSHR-related disorder
RS2503617333 CIROP Health Risk Likely pathogenic Heterotaxy, visceral
RS2503620997 NBEA Health Risk Likely pathogenic NBEA-related disorder, NBEA-related disorder
RS2503622228 NBEA Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS2503626360 NBEA Health Risk Pathogenic —
RS2503634132 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS2503635511 BCL11B Health Risk Pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS2503635576 BCL11B Health Risk Likely pathogenic BCL11B-related disorder, BCL11B-related disorder
RS2503635965 BCL11B Health Risk Likely pathogenic —
RS2503636070 BCL11B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2503636087 BCL11B Health Risk Likely pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS2503636657 BCL11B Health Risk Pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS2503639083 NBEA Health Risk Likely pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS2503640330 NBEA Health Risk Pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS2503641685 BCL11B Health Risk Pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS2503643685 DLK1 Health Risk Likely pathogenic Central precocious puberty, Central precocious puberty
RS2503644647 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS2503645451 BCL11B Health Risk Likely pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS2503648198 BCL11B Health Risk Pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS2503648320 BCL11B Health Risk Likely pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS2503652316 BCL11B Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2503652732 TTLL5 Health Risk Pathogenic —
RS2503654780 TMEM260 Health Risk Pathogenic Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
RS2503665263 NBEA Health Risk Pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS2503672265 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS2503693934 DYNC1H1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS2503696010 DYNC1H1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 13
RS2503708532 DYNC1H1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS2503714640 DYNC1H1 Health Risk Likely pathogenic DYNC1H1-related disorder, DYNC1H1-related disorder
RS2503714657 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability
RS2503714817 DYNC1H1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS2503715379 DYNC1H1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS2503715383 DYNC1H1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS2503720187 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
RS2503721224 TSHR Health Risk Pathogenic —
RS2503726588 DYNC1H1 Health Risk Likely pathogenic DYNC1H1-related disorder, DYNC1H1-related disorder
RS2503727339 DYNC1H1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 13
RS2503727356 DYNC1H1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 13
RS2503730449 DYNC1H1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2503731165 DYNC1H1 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2503734461 DYNC1H1 Health Risk Pathogenic Intellectual disability, autosomal dominant 13
RS2503742080 DYNC1H1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2503746851 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 13
RS2503746947 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 13
RS2503747057 CDC42BPB Health Risk Likely pathogenic Chilton-Okur-Chung neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome
RS2503750754 DYNC1H1 Health Risk Likely pathogenic DYNC1H1-related disorder, DYNC1H1-related disorder
RS2503750846 DYNC1H1 Health Risk Pathogenic —
RS2503751017 DYNC1H1 Health Risk Likely pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Intellectual disability
RS2503751910 DYNC1H1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2503757710 DYNC1H1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 13
RS2503757868 DYNC1H1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 13
RS2503773145 DYNC1H1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 13
RS2503780305 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2503792325 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2503792540 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2503797582 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis
RS2503797952 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2503798515 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2503798936 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2503799127 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2503804130 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2503805285 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS2503806504 DYNC1H1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS2503812014 DYNC1H1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS2503812445 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2503823659 DYNC1H1 Health Risk Likely pathogenic —
RS2503824109 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS2503825876 DYNC1H1 Health Risk Conflicting classifications of pathogenicity DYNC1H1-related disorder, Inborn genetic diseases
RS2503831353 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2503832440 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2503833008 RDH12 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2503833321 RDH12 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2503833731 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2503833934 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2503834681 BCL11B Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with speech delay, dysmorphic facies
RS2503843400 DYNC1H1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2503844415 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS2503844606 NBEA Health Risk Pathogenic —
RS2503844940 DYNC1H1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS2503871450 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2503871870 RDH12 Health Risk Likely pathogenic RDH12-related disorder, RDH12-related disorder
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