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
RS772361886 PPP2R3C Health Risk Pathogenic Gonadal dysgenesis, dysmorphic facies
RS772362107 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS772362181 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS772363120 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Lynch syndrome 5
RS772363145 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS772364272 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS772364333 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS772364498 ZEB1 Health Risk Pathogenic —
RS772365732 MSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772365921 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS772366030 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS772367447 MYO18B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772368023 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS772368310 UBQLN2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
RS772369092 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS772370177 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS772370243 MPV17 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
RS772371753 PMFBP1 Health Risk Pathogenic Spermatogenic failure 31, Spermatogenic failure 31
RS772372530 GPSM2 Health Risk Pathogenic Rare genetic deafness, Chudley-McCullough syndrome
RS772374399 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS772374648 MYORG Health Risk Likely pathogenic Basal ganglia calcification, idiopathic
RS772377391 SYNE1 Health Risk Conflicting classifications of pathogenicity —
RS772377460 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS772378578 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS772378754 KPTN Health Risk Likely pathogenic Macrocephaly-developmental delay syndrome, Inborn genetic diseases
RS772379034 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS772379819 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS772381070 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS772381363 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS772381373 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS772381647 DOCK6 Health Risk Pathogenic —
RS772382178 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS772382705 PRMT7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772383867 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS77238412 ALB Health Risk Pathogenic Analbuminemia, Analbuminemia
RS772384826 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS772385793 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, Inborn genetic diseases
RS772386574 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS772387164 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS772388034 AICDA Health Risk Likely pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS772389382 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, Autosomal dominant spastic paraplegia type 9
RS772389513 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772389783 MBD4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS772390221 POU1F1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined
RS772390527 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS772391409 MKRN3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772392224 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS772392648 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS772392692 PDE6D Health Risk Pathogenic Joubert syndrome 22, Joubert syndrome 22
RS772393186 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, PCDH15-related disorder
RS772393451 MC4R Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Obesity
RS772394714 NALCN Health Risk Pathogenic Hypotonia, infantile
RS772394824 GPX4 Health Risk Pathogenic/Likely pathogenic Spondylometaphyseal dysplasia, Sedaghatian type
RS772395858 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS772395938 CERKL Health Risk Pathogenic —
RS772396187 DNAH1 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS772396478 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS772398324 SLC24A5 Health Risk Pathogenic Oculocutaneous albinism type 6, SLC24A5-related disorder
RS772398405 GABRB2 Health Risk Conflicting classifications of pathogenicity GABRB2-related epileptic encephalopathy, Intellectual disability
RS772399122 TRIP12 Health Risk Conflicting classifications of pathogenicity Clark-Baraitser syndrome, Inborn genetic diseases
RS772399724 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS772400670 CYP2U1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 56, See cases
RS772401056 GBE1 Health Risk Pathogenic Glycogen storage disease IV, classic hepatic
RS772401455 CTNNB1 Health Risk Conflicting classifications of pathogenicity —
RS772404077 PRG4 Health Risk Likely pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS772404105 SYNE4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 76, Autosomal recessive nonsyndromic hearing loss 76
RS772404945 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS772405848 AHDC1 Health Risk Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related disorder
RS772406487 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS772407116 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS772407797 PTCH1 Health Risk Pathogenic/Likely pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS772407988 EP300 Health Risk Conflicting classifications of pathogenicity EP300-related disorder, EP300-related disorder
RS772409032 SLC4A11 Health Risk Pathogenic SLC4A11-related disorder, Inborn genetic diseases
RS772410450 KARS1 Health Risk Conflicting classifications of pathogenicity Abnormal cerebral white matter morphology, Optic neuropathy
RS772411133 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases
RS772411713 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS772413313 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS772414581 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS772414652 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS772416503 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS772417180 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS772417830 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS772418162 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS772418918 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS772418993 SZT2 Health Risk Pathogenic —
RS772419789 THUMPD1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder with speech delay and variable ocular anomalies
RS772421306 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS772421550 MERTK Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS772421738 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS772422894 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS772423148 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS772424020 BPNT2 Health Risk Conflicting classifications of pathogenicity Chondrodysplasia with joint dislocations, gPAPP type
RS772424047 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS)
RS772424969 NDUFS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772425489 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS772426069 NEU1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772427096 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS772428072 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS772429569 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Neuroblastoma
RS772429581 SLC2A9 Health Risk Pathogenic/Likely pathogenic Hypouricemia, renal
« Prev 1 ... 3558 3559 3560 3561 3562 3563 3564 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →