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
RS368105987 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, FBN2-related disorder
RS368106957 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS368108311 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS368108883 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS368109068 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases
RS368109121 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS368109133 CUL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368110732 RSPH4A Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 11
RS368111672 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS368112491 TRIOBP Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Familial cancer of breast
RS368113790 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS368113811 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS368113841 DNHD1 Health Risk Pathogenic —
RS368114257 ABCG8 Health Risk Conflicting classifications of pathogenicity —
RS368114420 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS368114895 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
RS368115694 NADSYN1 Health Risk Pathogenic/Likely pathogenic Vertebral, cardiac
RS368115734 FGF23 Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypophosphatemic rickets, Tumoral calcinosis
RS368116362 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS368116696 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS368116715 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS368117488 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS368118099 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS368118378 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS368119340 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS368119524 TRIOBP Health Risk Conflicting classifications of pathogenicity —
RS368119540 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS368120713 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS368121196 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS368121231 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS368121566 MYBPC3 Health Risk Pathogenic/Likely pathogenic Primary familial hypertrophic cardiomyopathy, Cardiomyopathy
RS368122191 GLI2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Holoprosencephaly 9
RS368122233 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS368122278 CEP63 Health Risk Pathogenic —
RS368122382 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS368122868 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS368123079 PAX1 Health Risk Conflicting classifications of pathogenicity —
RS368123972 MPDU1 Health Risk Likely pathogenic —
RS368124046 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS368124198 PCDH15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368124508 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, MYH14-related disorder
RS368124753 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS368124813 VPS33B Health Risk Pathogenic VPS33B-related disorder, Arthrogryposis
RS368124997 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases
RS368125656 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, MYH9-related disorder
RS368126466 CYP27B1 Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets, type 1
RS368126549 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS368126732 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS368128494 EZH2 Health Risk Conflicting classifications of pathogenicity Weaver syndrome, Intellectual disability
RS368129012 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, AMT-related disorder
RS368129741 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS368130496 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS368130981 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Inborn genetic diseases
RS368131175 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases
RS368132097 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS368132822 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS368132877 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS368133957 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS368133994 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368134008 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS368134308 PRKN Health Risk Pathogenic Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS368134354 SPINK5 Health Risk Pathogenic/Likely pathogenic Increased circulating IgE concentration, Erythroderma
RS368135271 ABCA12 Health Risk Conflicting classifications of pathogenicity —
RS368135633 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Donnai-Barrow syndrome
RS368136864 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS368136871 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS368137511 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS368137679 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS368137821 CNGA1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS368138001 NPHP3 Health Risk Pathogenic Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
RS368138282 GLRA2 Health Risk Conflicting classifications of pathogenicity See cases, Intellectual developmental disorder
RS368138379 HSPA1L Health Risk association Inflammatory bowel disease 1, Inflammatory bowel disease 1
RS368138514 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, Van Maldergem syndrome 2
RS368139168 SPEN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368139423 NDUFB10 Health Risk Conflicting classifications of pathogenicity —
RS368140002 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Inborn genetic diseases
RS368141054 ARHGEF18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368142107 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS368142947 SON Health Risk Conflicting classifications of pathogenicity —
RS368143665 GRID2 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 18, Autosomal recessive spinocerebellar ataxia 18
RS368144567 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS368144654 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS368146879 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS368146962 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS368147403 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS368147684 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS368148074 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS368148362 DNAJC21 Health Risk Likely pathogenic Inherited bone marrow failure syndrome, Bone marrow failure syndrome 3
RS368148692 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS368149035 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS368149365 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS368149368 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS368150158 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS368150737 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS368150818 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS368150874 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS368150943 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS368151146 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS368151192 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS368151220 WAS Health Risk Pathogenic —
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