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
RS141534499 TAT Health Risk Conflicting classifications of pathogenicity Tyrosinemia type II, Tyrosinemia type II
RS1415345156 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1415346246 CCDC39 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS141534716 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS141535413 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1415360560 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1415376277 SCN2A Health Risk Likely pathogenic Episodic ataxia, type 9
RS141538649 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS141538857 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS141541070 SPTBN5 Health Risk Conflicting classifications of pathogenicity SPTBN5-related disorder, SPTBN5-related disorder
RS141542001 MYBBP1A Health Risk Conflicting classifications of pathogenicity Sarcoma, Sarcoma
RS141542003 TMEM126B Health Risk Pathogenic/Likely pathogenic Mitochondrial disease, Mitochondrial complex I deficiency
RS1415420768 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1415420832 DEAF1 Health Risk Pathogenic/Likely pathogenic Intellectual disability-epilepsy-extrapyramidal syndrome, Autism spectrum disorder
RS141542114 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease
RS141542477 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS1415432326 DNA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141543325 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin
RS141543407 UBR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141543499 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS141543597 DLK2 Health Risk Conflicting classifications of pathogenicity —
RS141543771 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS141544031 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS141544736 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141544939 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS141544967 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1415449695 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS141545475 OCA2 Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS1415464964 SMARCA4 Health Risk Pathogenic —
RS1415470235 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS1415475314 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1415483600 TMEM231 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 11
RS1415484067 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS141548628 KIF2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141548795 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection
RS141550472 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS141550859 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS141551053 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Ovarian cancer
RS1415519717 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS141552752 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS1415530626 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS141553491 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Inborn genetic diseases
RS1415537146 ITGB4 Health Risk Pathogenic —
RS141553756 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS141553858 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS141553918 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS141554123 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS141554661 GOSR2 Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy type 6, Progressive myoclonic epilepsy
RS141554682 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1415553044 IL10RA Health Risk Pathogenic Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS141555457 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS141555967 NR5A1 Health Risk Conflicting classifications of pathogenicity NR5A1-related disorder, Oligosynaptic infertility
RS141556170 COL9A2 Health Risk Conflicting classifications of pathogenicity Stickler syndrome, type 5
RS1415567368 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS141556780 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS141557187 NAGA Health Risk Conflicting classifications of pathogenicity Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2
RS141557634 STAMBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141558162 FOCAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141559449 ILDR1 Health Risk Conflicting classifications of pathogenicity —
RS141559558 ATP2A1 Health Risk Pathogenic Brody myopathy, ATP2A1-related disorder
RS141559684 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS1415601575 ADSS1 Health Risk Pathogenic —
RS141560248 RAG1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1415603265 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS141560532 PKLR Health Risk Pathogenic —
RS1415606768 TTR Health Risk Likely pathogenic Amyloidosis, hereditary systemic 1
RS141560868 CATIP Health Risk Pathogenic Spermatogenic failure 54, Spermatogenic failure 54
RS141560881 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1415609256 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS141560952 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder
RS141562079 GPSM2 Health Risk Conflicting classifications of pathogenicity Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS141562755 CPS1 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, neonatal
RS141563188 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, HSPG2-related disorder
RS141563261 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS141563497 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS141563594 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS141563823 PDE6B Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 40, Retinal dystrophy
RS141564522 CRX Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS141564681 ARHGAP24 Health Risk Conflicting classifications of pathogenicity —
RS141565234 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, RASopathy
RS141566041 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS1415664013 TWNK Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS141566634 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, NRXN1-related disorder
RS141566950 CNGB1 Health Risk Conflicting classifications of pathogenicity —
RS141567438 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS141567487 OXCT1 Health Risk Conflicting classifications of pathogenicity Succinyl-CoA acetoacetate transferase deficiency, OXCT1-related disorder
RS1415675587 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS141568342 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast and colorectal cancer
RS1415684146 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1415687857 KARS1 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Autosomal recessive nonsyndromic hearing loss 89
RS141568959 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS141569007 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 4
RS1415701260 AMH Health Risk Pathogenic/Likely pathogenic Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome
RS1415705359 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS141570582 DBH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Orthostatic hypotension 1
RS141570700 WFS1 Health Risk Conflicting classifications of pathogenicity —
RS141570833 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS141571121 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1415714103 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS141571609 NSDHL Health Risk Pathogenic Child syndrome, Child syndrome
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