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
RS1737429976 PDE6B Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 40
RS1737442897 PDE6B Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa
RS1737453248 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS1737457235 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS1737495759 NRROS Health Risk Pathogenic Seizures, early-onset
RS1737503567 PDE6B Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1737597490 WDFY3 Health Risk Pathogenic —
RS1737672350 NRROS Health Risk Pathogenic Seizures, early-onset
RS1737677036 NRROS Health Risk Pathogenic Seizures, early-onset
RS1737685202 NRROS Health Risk Likely pathogenic Seizures, early-onset
RS1737818730 MTRR Health Risk Pathogenic/Likely pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS1737852706 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS1737854315 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS1737950162 MSX1 Health Risk Conflicting classifications of pathogenicity Hypoplastic enamel-onycholysis-hypohidrosis syndrome, Tooth agenesis
RS1737950187 MSX1 Health Risk Pathogenic Hypoplastic enamel-onycholysis-hypohidrosis syndrome, Hypoplastic enamel-onycholysis-hypohidrosis syndrome
RS1737950636 MSX1 Health Risk Pathogenic Hypoplastic enamel-onycholysis-hypohidrosis syndrome, Hypoplastic enamel-onycholysis-hypohidrosis syndrome
RS1737970426 FBXW7 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS1737980148 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1738418070 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1738565324 GUCY2D Health Risk Likely pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS1738612312 ENAM Health Risk Pathogenic Amelogenesis imperfecta - hypoplastic autosomal dominant - local, Amelogenesis imperfecta - hypoplastic autosomal dominant - local
RS1738618466 RETREG1 Health Risk Pathogenic —
RS1738621357 ENAM Health Risk Likely pathogenic —
RS1738646700 RETREG1 Health Risk Pathogenic —
RS1738673948 CNGA1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1738688368 CNGA1 Health Risk Pathogenic —
RS1738695332 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS1738698692 CNGA1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1738701040 CNGA1 Health Risk Pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS1738719686 CNGA1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1739025907 CNGA1 Health Risk Pathogenic —
RS1739215940 CNGA1 Health Risk Pathogenic —
RS1739238968 SNCA Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 1, Autosomal dominant Parkinson disease 1
RS1739374011 SPEF2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1739469293 RPGRIP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Cone-rod dystrophy 13
RS1739482158 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS1739558635 FRAS1 Health Risk Likely pathogenic —
RS1739594685 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis
RS1739624229 NNT Health Risk Likely pathogenic Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
RS1739691061 HCN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 24
RS1739770567 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 2
RS1739811126 CNGA1 Health Risk Pathogenic —
RS1739959023 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1739974269 F11 Health Risk Pathogenic —
RS1740022320 FAT1 Health Risk Likely pathogenic —
RS1740078926 C7 Health Risk Pathogenic —
RS1740083267 C7 Health Risk Pathogenic —
RS1740105027 F11 Health Risk Pathogenic —
RS1740186895 FGF10 Health Risk Likely pathogenic Orofacial cleft 1, Orofacial cleft 1
RS1740201702 F11 Health Risk Pathogenic —
RS1740291234 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1740380459 RPGRIP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1740436185 C7 Health Risk Likely pathogenic —
RS1740652803 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1740702281 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1740724748 C7 Health Risk Likely pathogenic —
RS1740730588 NDUFS4 Health Risk Likely pathogenic Leigh syndrome, Mitochondrial complex I deficiency
RS1740799305 TBCK Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS1740842785 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1740845459 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1740904060 MOCS2 Health Risk Pathogenic Combined molybdoflavoprotein enzyme deficiency, Combined molybdoflavoprotein enzyme deficiency
RS1740929756 MOCS2 Health Risk Pathogenic —
RS1740933642 MOCS2 Health Risk Likely pathogenic Combined molybdoflavoprotein enzyme deficiency, Combined molybdoflavoprotein enzyme deficiency
RS1741002305 F11 Health Risk Pathogenic/Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1741117263 MOCS2 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS1741122462 BLTP1 Health Risk Likely pathogenic Severe hydrocephalus, Arthrogryposis multiplex congenita
RS1741165195 F11 Health Risk Pathogenic —
RS1741183871 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1741192008 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1741382224 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1741388544 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1741436306 TRIO Health Risk Likely pathogenic —
RS1741445944 TRIO Health Risk Likely pathogenic —
RS1741461840 NFKB1 Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable
RS1741466817 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS1741493255 NNT Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1741916135 GPR179 Health Risk Likely pathogenic —
RS1741953064 NPR3 Health Risk Likely pathogenic Boudin-Mortier syndrome, Boudin-Mortier syndrome
RS1741984828 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1741988534 RETREG1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1742074967 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1742088018 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1742093744 DNAH5 Health Risk Pathogenic —
RS17425208 FRG1 Health Risk Pathogenic Pulmonary artery atresia, Pulmonary artery atresia
RS17425877 UROS Health Risk Conflicting classifications of pathogenicity Cutaneous porphyria, Cutaneous porphyria
RS1742717583 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1743016889 MSH3 Health Risk Pathogenic/Likely pathogenic Endometrial carcinoma, Hereditary cancer-predisposing syndrome
RS1743038020 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1743041017 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1743097125 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1743147822 CWC27 Health Risk Likely pathogenic —
RS1743272091 MSH3 Health Risk Pathogenic —
RS1743273111 MSH3 Health Risk Pathogenic —
RS1743273255 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1743273324 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS1743299340 SCLT1 Health Risk Pathogenic SCLT1-related disorder, SCLT1-related disorder
RS1743352460 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS1743353294 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS1743355453 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Endometrial carcinoma
RS1743358464 PDE4D Health Risk Likely pathogenic Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
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