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
RS1442485603 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS144249535 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1442496444 DSP Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS144249808 PRPF8 Health Risk Conflicting classifications of pathogenicity Choroideremia, Choroideremia
RS1442498340 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS144250390 DNM2 Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy, Charcot-Marie-Tooth disease dominant intermediate B
RS144250872 TREM2 Health Risk Conflicting classifications of pathogenicity Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
RS1442514678 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS144251950 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS144252108 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, SLC39A4-related disorder
RS144252446 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144252500 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1442525444 CYP11B2 Health Risk Pathogenic Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS144253015 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS144253022 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SRCAP-related disorder
RS144254383 RLBP1 Health Risk Conflicting classifications of pathogenicity Pigmentary retinal dystrophy, Retinitis pigmentosa
RS144254445 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1442557180 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS144256391 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), Inborn genetic diseases
RS144256966 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Cardiomyopathy
RS144257114 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS144257298 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS144257610 HPS6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 6, Inborn genetic diseases
RS144259658 OTOF Health Risk Conflicting classifications of pathogenicity Hearing impairment, Autosomal recessive nonsyndromic hearing loss 9
RS1442597198 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS144259891 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder
RS1442599198 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS144261171 DES Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction cardiomyopathy, Desmin-related myofibrillar myopathy
RS1442611750 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144261466 SLC9A1 Health Risk Conflicting classifications of pathogenicity —
RS144261647 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS144262027 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS1442627890 USH2A Health Risk Conflicting classifications of pathogenicity —
RS1442635383 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1442638461 TMEM231 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Joubert syndrome 20
RS144264865 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group 7
RS144266674 BLNK Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 4, autosomal recessive
RS144267558 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1442688061 SPTA1 Health Risk Likely pathogenic —
RS144268831 KCNJ13 Health Risk Conflicting classifications of pathogenicity —
RS144269117 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS144269434 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS144269675 CUL7 Health Risk Conflicting classifications of pathogenicity —
RS144269709 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS144269839 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS144269978 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A
RS144270019 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS144270260 ST3GAL5 Health Risk Conflicting classifications of pathogenicity GM3 synthase deficiency, GM3 synthase deficiency
RS144270555 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Inborn genetic diseases
RS1442714301 SYNE1 Health Risk Pathogenic —
RS144271819 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency
RS1442721723 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy
RS144272231 ANO10 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS1442728513 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS144273492 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS144274136 KARS1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS144275086 SCNN1A Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS144275591 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1442766122 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS144277054 NUP62 Health Risk Conflicting classifications of pathogenicity —
RS144277094 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS144277716 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS144278051 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS144278080 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1442783307 SPRED1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS144278349 CEP104 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 25, Inborn genetic diseases
RS144278838 LAMA1 Health Risk Conflicting classifications of pathogenicity See cases, LAMA1-related disorder
RS1442790649 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group 7
RS144279427 GLRB Health Risk Conflicting classifications of pathogenicity Hyperekplexia 2, Inborn genetic diseases
RS144279637 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS1442815965 APOB Health Risk Pathogenic Hypercholesterolemia, familial
RS144282156 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, COL4A5-related disorder
RS144282452 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS144282503 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS144283422 OXCT1 Health Risk Conflicting classifications of pathogenicity Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS1442840881 VPS33B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1442844778 PRPH2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1442845757 ENAM Health Risk Likely pathogenic ENAM-related disorder, ENAM-related disorder
RS144284975 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS144285319 SLC4A11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144285788 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Inborn genetic diseases
RS1442860813 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS144286892 GNMT;PEX6 Health Risk Conflicting classifications of pathogenicity PEX6 POLYMORPHISM, Peroxisome biogenesis disorder
RS144287016 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS144287432 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS144287929 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS144288433 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS144288844 FBLN5 Health Risk Conflicting classifications of pathogenicity Macular degeneration, age-related
RS1442895662 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1442896663 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS144289764 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS144289912 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 66, Retinitis pigmentosa
RS144290224 SLC52A2 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases
RS144290291 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Inborn genetic diseases
RS144290584 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS1442912535 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS144291325 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS144291418 TBX15 Health Risk Conflicting classifications of pathogenicity TBX15-related disorder, Pelviscapular dysplasia
RS1442918125 ALPL Health Risk Pathogenic Infantile hypophosphatasia, Childhood hypophosphatasia
RS1442922319 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
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