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
RS199719765 BDP1 Health Risk Conflicting classifications of pathogenicity —
RS199719878 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS199720089 CAVIN1 Health Risk Likely pathogenic Congenital generalized lipodystrophy type 4, Congenital generalized lipodystrophy type 4
RS199720231 TTI2 Health Risk Conflicting classifications of pathogenicity TTI2-related disorder, TTI2-related disorder
RS199721048 PRPF3 Health Risk Conflicting classifications of pathogenicity PRPF3-related disorder, PRPF3-related disorder
RS199721283 SAMHD1 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS199721728 BDP1 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive 112
RS199721776 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS199721954 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS199722285 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS199722402 INO80 Health Risk Likely pathogenic Primary microcephaly, Seizure
RS199723110 PKD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant polycystic kidney disease
RS199723136 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS199723282 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Pick disease
RS199723328 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS199723460 VPS13C Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 23, Autosomal recessive early-onset Parkinson disease 23
RS199723531 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS199723613 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, ABCD1-related disorder
RS199724002 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS199724052 USH1G Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1G, Usher syndrome type 1G
RS199724219 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS199724285 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS199724291 TMC6 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS199724338 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS199724546 ZFAT Health Risk Conflicting classifications of pathogenicity —
RS199724772 PAX2 Health Risk Conflicting classifications of pathogenicity Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS199725919 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS199726068 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS199726308 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS199726428 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Connective tissue disorder
RS199727062 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS199727236 SH3PXD2B Health Risk Conflicting classifications of pathogenicity —
RS199727292 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS199727342 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS199727371 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, Orofacial cleft 8
RS199727372 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS199727517 SPATA7 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 3
RS199727564 MRNIP;SQSTM1 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 3, Paget disease of bone 3
RS199727584 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS199727787 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS199727800 PROM1 Health Risk Conflicting classifications of pathogenicity Stargardt disease 4, Retinitis pigmentosa
RS199727942 FAM47C Health Risk Conflicting classifications of pathogenicity —
RS199728019 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS199728312 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS199728337 INTS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199728419 CPAMD8 Health Risk Likely pathogenic Anterior segment dysgenesis, Anterior segment dysgenesis
RS199728640 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS199728745 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Inborn genetic diseases
RS199728785 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS199728911 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS199729084 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS199729402 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS199729746 NAGLU Health Risk Conflicting classifications of pathogenicity Intellectual disability, Mucopolysaccharidosis
RS199729909 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199729963 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS199729978 ABCC6 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS199730080 FMN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199730192 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2
RS199730384 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS199730476 CCDC88C Health Risk Conflicting classifications of pathogenicity —
RS199730497 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS199730853 MPDZ Health Risk Conflicting classifications of pathogenicity Hydrocephalus, nonsyndromic
RS199730889 TRMT10C Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 30, Mitochondrial disease
RS199731077 DSE Health Risk Likely pathogenic —
RS199731143 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder
RS199731535 ATR Health Risk Likely pathogenic —
RS199731883 CFHR4 Health Risk Conflicting classifications of pathogenicity —
RS199731969 CFAP418 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 16, Retinitis pigmentosa
RS199732159 SACS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS199732595 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS199732997 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Inborn genetic diseases
RS199733325 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS199733994 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS199734111 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, AMACR-related disorder
RS199734455 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS199734710 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS199734772 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS199735010 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS199735068 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Usher syndrome type 2C
RS199735109 TFR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary hemochromatosis
RS199735129 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS199735148 KCNV2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199735209 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS199735534 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, SLC25A13-related disorder
RS199735877 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS199735886 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS199735993 IL7R Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Inborn genetic diseases
RS199736016 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS199736219 WDR62 Health Risk Pathogenic/Likely pathogenic Microcephaly 2, primary
RS199736263 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS199736271 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS199736573 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS199736888 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome
RS199736893 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS199737206 COX10 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex IV deficiency
RS199737737 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS199737747 ITGA6 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS199737793 WNT10A Health Risk Conflicting classifications of pathogenicity Odonto-onycho-dermal dysplasia, Tooth agenesis
RS199738190 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS199738750 NEXN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1CC
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