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
RS751906778 MSRB3 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 74, Autosomal recessive nonsyndromic hearing loss 74
RS75190712 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS751907207 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS751909208 MYH14 Health Risk Conflicting classifications of pathogenicity —
RS751909622 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS751909800 ODAD1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751910922 XPNPEP3 Health Risk Likely pathogenic Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
RS75191159 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751913060 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS751913459 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS751913925 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS751914344 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS751914353 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS751914956 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS751915137 RNASEH2B Health Risk Likely pathogenic Aicardi-Goutieres syndrome 2, Clear cell carcinoma of kidney
RS751915363 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS751916833 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS751918276 OFD1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome I, Joubert syndrome
RS751918816 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS751919154 FSCN2 Health Risk Conflicting classifications of pathogenicity —
RS751920183 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma
RS751920586 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS751920647 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS751920801 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS751921616 RMRP Health Risk Pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS751921838 XDH Health Risk Pathogenic Xanthinuria type II, Xanthinuria type II
RS751922029 CFAP418 Health Risk Likely pathogenic Bardet-biedl syndrome 21, Bardet-biedl syndrome 21
RS751922417 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuropathy
RS751923342 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS751923973 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS751924200 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS751926047 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS751926317 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS751927713 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS751927717 NALCN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751927853 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS751928831 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS751929135 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS751929342 DARS2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS751929345 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS751929468 CPAP Health Risk Pathogenic —
RS751929745 TRAPPC9 Health Risk Pathogenic —
RS751930232 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS751930327 PHF21A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751930594 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia
RS751931256 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS751931499 FOXP2 Health Risk Conflicting classifications of pathogenicity Childhood apraxia of speech, Childhood apraxia of speech
RS751931568 KCNE2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 6, Long QT syndrome 6
RS751931671 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS751932727 GNRH1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 12 with or without anosmia, Hypogonadotropic hypogonadism 12 with or without anosmia
RS751933066 ERLEC1 Health Risk Likely pathogenic Mandibular prognathia, Mandibular prognathia
RS751933977 CPT1C Health Risk Likely pathogenic Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS751935179 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS751935649 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS751935868 ZMIZ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751936457 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751936459 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Intellectual disability
RS751937099 CYP4F22 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS751937390 IL1RN Health Risk Conflicting classifications of pathogenicity Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome
RS751937417 FUS Health Risk Conflicting classifications of pathogenicity Tremor, hereditary essential
RS75193786 PAH Health Risk Pathogenic Phenylketonuria, See cases
RS751938101 MPDZ Health Risk Pathogenic —
RS751938579 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS751938743 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS751938843 NEB Health Risk Likely pathogenic Inborn genetic diseases, Nemaline myopathy 2
RS751939820 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS751939888 TRPV4 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Charcot-Marie-Tooth disease axonal type 2C
RS751940610 ACAD8 Health Risk Likely pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS751942119 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS751942358 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Dilated cardiomyopathy 1I
RS751943571 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C
RS751944867 MICOS13 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 37, Combined oxidative phosphorylation deficiency 37
RS751945652 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS751945982 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS751946182 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS751947412 CACNA1A Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 6, Developmental and epileptic encephalopathy
RS751948498 TGFBR2 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS751948774 SCN9A Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS751949453 DVL1 Health Risk Conflicting classifications of pathogenicity —
RS751949857 ABCA12 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B
RS751950437 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS751951004 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751951068 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS751951109 PDLIM3 Health Risk Conflicting classifications of pathogenicity Restrictive cardiomyopathy, Restrictive cardiomyopathy
RS751951476 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS751951617 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751951695 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS751952198 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS751952236 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Hematuria
RS751952525 TMEM237 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 14, Joubert syndrome 14
RS751952844 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Dystonia 27
RS751953459 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease type 1B, Maple syrup urine disease
RS751953529 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS751953837 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, MED13L-related disorder
RS751953918 ANO6 Health Risk Pathogenic —
RS751954386 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS751955381 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, Congenital myopathy 10b
RS751955563 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS751955635 COL5A2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS751955670 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
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