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
RS201202646 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS201202659 MPV17 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
RS201202700 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS201202780 TSPEAR Health Risk Conflicting classifications of pathogenicity —
RS201202896 DHODH Health Risk Conflicting classifications of pathogenicity Miller syndrome, Miller syndrome
RS201203036 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1
RS201203264 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS201203345 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Inborn genetic diseases
RS201203400 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa
RS201203425 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS201203517 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS201203611 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS201203612 PAPSS2 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, PAPSS2 type
RS201204271 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Hyperplastic polyposis syndrome
RS201204481 ST3GAL3 Health Risk Pathogenic Inborn genetic diseases, ST3GAL3-related disorder
RS201204502 CLCNKB Health Risk Pathogenic/Likely pathogenic Bartter disease type 4B, Bartter disease type 3
RS201204842 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS201204862 PDYN Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS201204893 L1CAM Health Risk Likely pathogenic MASA syndrome, MASA syndrome
RS201205115 LMOD3 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Nemaline myopathy 10
RS201205689 CYP4V2 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Bietti crystalline corneoretinal dystrophy
RS201205798 GATB Health Risk Conflicting classifications of pathogenicity —
RS201205811 CLRN1 Health Risk Likely pathogenic Usher syndrome type 3, Retinitis pigmentosa 61
RS201205904 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS201206202 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS201206239 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS201206374 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201206379 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS201206424 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS201206500 TSC2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Tuberous sclerosis 2
RS201207110 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Congenital myotonia
RS201207422 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS201207594 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Dilated cardiomyopathy 1W
RS201207626 ZAP70 Health Risk Likely pathogenic Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS201207653 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201207780 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS201207790 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS201208445 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS201208911 ERLIN1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 62, Hereditary spastic paraplegia
RS201209327 ASNS Health Risk Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS201209341 LAMP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS201209516 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS201210474 SDHC Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 3, Pheochromocytoma
RS201210527 AICDA Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 2, AICDA-related disorder
RS201210696 TGFBI Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS201210726 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS201210744 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201210799 BEST1 Health Risk Conflicting classifications of pathogenicity —
RS201210830 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS201211181 KDM3B Health Risk Likely pathogenic Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS201211377 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Nephrolithiasis/nephrocalcinosis
RS201211875 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS201211891 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS201212314 KIAA0825 Health Risk Likely pathogenic Polydactyly, postaxial
RS201212360 ABCC2 Health Risk Pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS201212542 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 4
RS201212781 AHNAK Health Risk Conflicting classifications of pathogenicity —
RS201212806 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS201212908 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS201212909 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, NRXN1-related disorder
RS201213030 ODAD2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS201213079 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome
RS201213306 TMCO1 Health Risk Pathogenic Craniofacial dysmorphism, skeletal anomalies
RS201213605 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201213623 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Inborn genetic diseases
RS201213891 ROGDI Health Risk Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS201213901 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiomyopathy
RS201214090 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS201214138 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS201214320 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201214475 CIT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201214736 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS201214794 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS201215099 CTU2 Health Risk Conflicting classifications of pathogenicity CTU2-related disorder, CTU2-related disorder
RS201215121 CLCN2 Health Risk Conflicting classifications of pathogenicity Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema
RS201215245 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS201215425 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS201215476 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS201215628 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS201215734 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group F
RS201216108 ARL6IP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 61, Inborn genetic diseases
RS201216195 TDRD7 Health Risk Conflicting classifications of pathogenicity Cataract 36, Cataract 36
RS201216284 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Frontotemporal dementia
RS201216611 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS201216830 ARHGAP31 Health Risk Conflicting classifications of pathogenicity —
RS201216865 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS201217015 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS201217064 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, Pyruvate kinase hyperactivity
RS201217202 ITGA7 Health Risk Pathogenic/Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS201217462 TBX20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201217593 DMD Health Risk Conflicting classifications of pathogenicity Ptosis, Clinodactyly of the 5th finger
RS201217824 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS201218801 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 5, Nephronophthisis
RS201218828 TTN Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS201218861 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS201219004 COL9A3 Health Risk Conflicting classifications of pathogenicity COL9A3-related disorder, COL9A3-related disorder
RS201219118 HDAC4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS201219446 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS201219613 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS201219683 IDUA;SLC26A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nephrolithiasis susceptibility caused by SLC26A1
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