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
RS1730934090 WFS1 Health Risk Pathogenic —
RS1730936563 WFS1 Health Risk Uncertain risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS1730936877 WFS1 Health Risk Conflicting classifications of pathogenicity Monogenic hearing loss, Monogenic hearing loss
RS1730945388 CEP135 Health Risk Pathogenic/Likely pathogenic —
RS1730963697 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram-like syndrome, Wolfram syndrome 1
RS1730966561 WFS1 Health Risk Conflicting classifications of pathogenicity Cataract 41, Wolfram syndrome 1
RS1730968028 WFS1 Health Risk Likely risk allele Autosomal dominant nonsyndromic hearing loss 6, Wolfram syndrome 1
RS1730968164 WFS1 Health Risk Uncertain significance/Uncertain risk allele Type 2 diabetes mellitus, Wolfram syndrome 1
RS1730973578 SEC24D Health Risk Likely pathogenic —
RS1731078730 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS1731099484 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS1731156302 EVC Health Risk Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1731162235 FRAS1 Health Risk Likely pathogenic —
RS1731205978 ADD1 Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS1731221844 WDR19 Health Risk Pathogenic Nephronophthisis 13, Nephronophthisis 13
RS1731366707 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1731409120 TBX1 Health Risk Pathogenic/Likely pathogenic DiGeorge syndrome, TBX1-related disorder
RS1731436153 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1731469688 PIGG Health Risk Likely pathogenic —
RS17316607 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1731781760 CTBP1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1731852340 RARS2 Health Risk Pathogenic —
RS1732036148 RNF168 Health Risk Pathogenic —
RS1732043783 RNF168 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1732086609 OPA1 Health Risk Pathogenic Optic atrophy, Optic atrophy
RS1732133553 STUB1 Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia 48, Autosomal recessive spinocerebellar ataxia 16
RS1732173818 SLC39A8 Health Risk Likely pathogenic SLC39A8-CDG, SLC39A8-CDG
RS1732195544 SCARB2 Health Risk Pathogenic Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome
RS1732274672 FRAS1 Health Risk Likely pathogenic —
RS1732338984 SCARB2 Health Risk Likely pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS1732397227 CLCN3 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental disorder with hypotonia and brain abnormalities
RS1732439983 MANBA Health Risk Pathogenic/Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1732611964 CLCN3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1732670701 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1732687174 GRID2 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 18, Autosomal recessive spinocerebellar ataxia 18
RS1732698125 SCARB2 Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome
RS1732760873 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1732788163 OPA1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1732803804 ANTXR2 Health Risk Pathogenic/Likely pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS1732838323 LRAT Health Risk Pathogenic —
RS1732840025 LRAT Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Leber congenital amaurosis 14
RS1732848653 LRAT Health Risk Likely pathogenic Leber congenital amaurosis 14, Leber congenital amaurosis 14
RS1732856311 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1732862259 FRAS1 Health Risk Pathogenic —
RS1732862637 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1732900321 CLCN3 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental delay
RS1732935012 LRAT Health Risk Pathogenic Leber congenital amaurosis 14, Leber congenital amaurosis 14
RS1733002976 CYP2U1 Health Risk Likely pathogenic Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56
RS1733026743 CLCN3 Health Risk Pathogenic Autism, susceptiblity to
RS1733081846 OPA1 Health Risk Pathogenic Optic atrophy, Optic atrophy
RS1733108376 SCARB2 Health Risk Likely pathogenic Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome
RS1733155852 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1733174455 PRMT9 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS1733210295 PROM1 Health Risk Pathogenic —
RS1733212554 PROM1 Health Risk Likely pathogenic Cone-rod dystrophy 12, Cone-rod dystrophy 12
RS1733238245 WDFY3 Health Risk Likely pathogenic Microcephaly 18, primary
RS1733349358 BMPR1B Health Risk Likely pathogenic —
RS1733504639 WDR19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Asphyxiating thoracic dystrophy 5
RS1733648064 CYP2U1 Health Risk Pathogenic Intellectual disability, Lower limb spasticity
RS17337079 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1733868277 PHOX2B Health Risk Pathogenic Neuroblastoma, susceptibility to
RS1733874227 PHOX2B Health Risk Pathogenic —
RS1733876864 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1733878065 PHOX2B Health Risk Pathogenic Congenital central hypoventilation, PHOX2B-related disorder
RS1733881278 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PHOX2B-related disorder
RS1733890628 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS1733894573 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1733919437 FRAS1 Health Risk Likely pathogenic —
RS1733941453 PHOX2B Health Risk Pathogenic/Likely pathogenic Congenital central hypoventilation, Hereditary cancer-predisposing syndrome
RS1733945703 PHOX2B Health Risk Likely pathogenic Congenital central hypoventilation syndrome, with or without Hirschsprung disease
RS1733947320 PHOX2B Health Risk Pathogenic Congenital central hypoventilation, Hereditary cancer-predisposing syndrome
RS1733978179 OPA1 Health Risk Pathogenic —
RS1733985177 PHOX2B;PHOX2B-AS1 Health Risk Pathogenic —
RS1734053435 PDE6B Health Risk Pathogenic —
RS1734056711 PDE6B Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS1734061080 NDUFS6 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 9
RS1734061767 PDE6B Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 40
RS1734066308 PDE6B Health Risk Likely pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS1734066547 PDE6B Health Risk Pathogenic Cone-rod dystrophy, Retinal dystrophy
RS1734075026 PDE6B Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1734162973 OPA1 Health Risk Likely pathogenic Optic atrophy, Autosomal dominant optic atrophy classic form
RS1734176382 OPA1 Health Risk Pathogenic —
RS1734259370 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1734300591 NDUFS6 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 9
RS1734373037 PRDM5 Health Risk Likely pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS1734381962 PRDM5 Health Risk Likely pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS1734386587 GRIA2 Health Risk Pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS1734410152 SLC25A4 Health Risk Likely pathogenic —
RS1734410318 SLC25A4 Health Risk Pathogenic —
RS1734453026 OPA1 Health Risk Conflicting classifications of pathogenicity Abortive cerebellar ataxia, Abortive cerebellar ataxia
RS1734559010 PROM1 Health Risk Pathogenic —
RS1734625225 SLC39A8 Health Risk Likely pathogenic SLC39A8-CDG, SLC39A8-CDG
RS1734697591 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Inborn genetic diseases
RS1734714805 TRAPPC11 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS1734720424 FAT4 Health Risk Pathogenic —
RS1734738637 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1734829878 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1734830402 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1734832099 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1734835445 BMPR1B Health Risk Likely pathogenic Acromesomelic dysplasia 2C, Hunter-Thompson type
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