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
RS1186590801 COG5 Health Risk Likely pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1186608353 ODAD3 Health Risk Likely pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS1186642479 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1186665805 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiomyopathy
RS1186667603 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS1186669727 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, FANCA-related disorder
RS1186676831 WAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Thrombocytopenia 1
RS1186690391 SETX Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1186696459 HPDL Health Risk Likely pathogenic Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Spastic paraplegia
RS1186699852 AP5Z1 Health Risk Likely pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS1186706389 FREM2 Health Risk Pathogenic —
RS1186718194 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1186740723 PRR12 Health Risk Pathogenic Neuroocular syndrome, Neuroocular syndrome
RS1186764263 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1186766555 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1186771860 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS1186788102 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS1186795749 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS1186801216 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1186821575 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1186852853 RNF216 Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
RS1186858080 TRAPPC11 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS1186877944 LRP5 Health Risk Pathogenic —
RS1186881962 APRT Health Risk Likely pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1186901138 F7 Health Risk Likely pathogenic Congenital factor VII deficiency, F7-related disorder
RS1186905126 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1186913814 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1186932787 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1186935022 PDGFRA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS1186944777 CWC27 Health Risk Pathogenic —
RS1186948711 DDX3X Health Risk Pathogenic Global developmental delay, Intellectual disability
RS1186975248 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1186978034 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1186982981 DNAH9 Health Risk Likely pathogenic DNAH9-related disorder, DNAH9-related disorder
RS1186996487 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1186997983 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS1187000436 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS1187002038 SLC19A2 Health Risk Pathogenic —
RS1187013377 TELO2 Health Risk Pathogenic —
RS1187015124 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1187032187 ABCA12 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4A
RS1187036876 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS1187037268 ANO5 Health Risk Likely pathogenic —
RS1187047204 COL9A1 Health Risk Pathogenic —
RS1187079906 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1187082329 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1187087405 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1187097568 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1187106228 SDHD Health Risk Conflicting classifications of pathogenicity Carney-Stratakis syndrome, Pheochromocytoma
RS1187142382 CPLANE1 Health Risk Pathogenic Orofaciodigital syndrome type 6, Joubert syndrome 17
RS1187150199 PROM1 Health Risk Pathogenic —
RS1187165148 TRRAP Health Risk Likely pathogenic TRRAP-related neurodevelopmental disorder, TRRAP-related neurodevelopmental disorder
RS1187168418 TPRN Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79
RS1187190721 GOSR2 Health Risk Likely pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS1187206011 ERCC5 Health Risk Likely pathogenic Xeroderma pigmentosum, group G
RS1187228917 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1187229401 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1187245939 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1187251909 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1187268269 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS1187270724 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1187271694 MYH2 Health Risk Pathogenic Myopathy, proximal
RS1187285510 BDP1 Health Risk Likely pathogenic Deafness, Deafness
RS1187293049 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS1187296225 LMNB1 Health Risk Conflicting classifications of pathogenicity —
RS1187307540 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS1187336837 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS1187375556 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1187379488 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1187380696 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1187387547 MERTK Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1187391596 ADAMTSL4 Health Risk Pathogenic —
RS1187391940 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1187393388 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1187395677 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1187416161 TTC19 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex III deficiency nuclear type 2, Mitochondrial complex III deficiency nuclear type 2
RS1187421976 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1187427685 MYPN Health Risk Pathogenic Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS1187435534 CEP63 Health Risk Pathogenic —
RS1187467461 USH1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1187504822 MSTO1 Health Risk Conflicting classifications of pathogenicity See cases, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
RS1187506921 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1187516594 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS1187517509 ABCB4 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS1187534568 QARS1 Health Risk Likely pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS1187541060 RPS6KA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS1187569251 ANO5 Health Risk Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS1187611948 TENT5A Health Risk Pathogenic Osteogenesis imperfecta, type 18
RS1187630820 FREM1 Health Risk Likely pathogenic —
RS1187631754 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1187634059 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1187644045 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1187653939 TCEAL1 Health Risk Likely pathogenic Neurodevelopmental disorder with gait disturbance, dysmorphic facies
RS1187668418 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1187674541 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1187708513 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1187710437 CSRP3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
RS1187732102 PHIP Health Risk Pathogenic —
RS1187765069 FARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS1187790496 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
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