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
RS1388180864 YY1AP1 Health Risk Likely pathogenic Grange syndrome, Grange syndrome
RS138818135 MVK Health Risk Conflicting classifications of pathogenicity Porokeratosis 3, disseminated superficial actinic type
RS138818421 NDUFS1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS138818489 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1388184910 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS138818894 EPHA2 Health Risk Conflicting classifications of pathogenicity Cataract 6 multiple types, EPHA2-related disorder
RS138818907 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS138819354 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Inborn genetic diseases
RS1388197341 SRRM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138819868 MACF1 Health Risk Conflicting classifications of pathogenicity Abnormal corpus callosum morphology, MACF1-related disorder
RS138820989 TKT Health Risk Conflicting classifications of pathogenicity TKT-related disorder, Transketolase deficiency
RS1388219872 ABCA4 Health Risk Likely pathogenic Stargardt disease, Stargardt disease
RS138821993 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, CLN8-related disorder
RS138822116 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases
RS138822893 SMAD9 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS138823379 OTOGL Health Risk Conflicting classifications of pathogenicity OTOGL-related disorder, OTOGL-related disorder
RS138823746 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS1388238708 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1388240091 BRAT1 Health Risk Likely pathogenic Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS138824013 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS138824667 ALDOA Health Risk Conflicting classifications of pathogenicity HNSHA due to aldolase A deficiency, ALDOA-related disorder
RS1388246689 RNASEH2A Health Risk Likely pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS138824805 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS138825875 CFAP43 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 19, Spermatogenic failure 19
RS138826105 IDUA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mucopolysaccharidosis type 1
RS138826545 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS138826926 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1388273402 OCRL Health Risk Conflicting classifications of pathogenicity Dent disease type 2, Lowe syndrome
RS138827421 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1388274211 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS138828136 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Inborn genetic diseases
RS1388285232 SLC51A Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS138828590 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS138829117 ISG15 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, ISG15-related disorder
RS138830253 PDGFRB Health Risk Conflicting classifications of pathogenicity 6 conditions, Basal ganglia calcification
RS138831180 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS138831474 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS138831590 RHO Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 1, Retinitis pigmentosa
RS138831802 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS138832017 TP63 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 8, Ectrodactyly
RS138832246 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS138832466 NOP56 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1388327076 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS138832868 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Episodic pain syndrome
RS138833473 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS138833596 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS138834083 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS138834145 CFHR5 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Atypical hemolytic-uremic syndrome
RS138834515 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Connective tissue disorder
RS138834578 STIL Health Risk Conflicting classifications of pathogenicity Microcephaly 7, primary
RS138834680 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS1388355040 ZMYND11 Health Risk Pathogenic Intellectual disability, autosomal dominant 30
RS138836272 PSEN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1V, Alzheimer disease 4
RS138836357 GUCY2D Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS1388367359 UBR1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1388369479 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS138837077 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1388373598 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis 1
RS138837774 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia
RS138838276 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS138838869 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS138839071 CFHR3 Health Risk Conflicting classifications of pathogenicity Cholangiocarcinoma, Malignant tumor of urinary bladder
RS138839077 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS138839321 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Inborn genetic diseases
RS138839403 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS1388398276 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1388406920 MITF Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A
RS138840811 TRIO Health Risk Conflicting classifications of pathogenicity TRIO-related disorder, TRIO-related disorder
RS1388409083 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS1388410133 ROBO3 Health Risk Pathogenic —
RS138841970 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Beckwith-Wiedemann syndrome
RS138843050 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group 7
RS138843691 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS138844366 RNF43 Health Risk Conflicting classifications of pathogenicity RNF43-related disorder, Hyperplastic polyposis syndrome
RS1388444100 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS138844452 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS138844739 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases
RS138845109 KMT2C Health Risk Conflicting classifications of pathogenicity atypical cerebral palsy, KMT2C-related disorder
RS1388451551 TYR Health Risk Likely pathogenic Oculocutaneous albinism type 1B, Oculocutaneous albinism type 1B
RS138846118 VPS13C Health Risk Pathogenic/Likely pathogenic Autosomal recessive early-onset Parkinson disease 23, Autosomal recessive early-onset Parkinson disease 23
RS1388462218 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS138846390 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1388470784 CNGA3 Health Risk Pathogenic —
RS138847501 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS1388475291 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1388478228 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1388479165 FLG Health Risk Pathogenic —
RS138848040 STIM1 Health Risk Conflicting classifications of pathogenicity Myopathy with tubular aggregates, Combined immunodeficiency due to STIM1 deficiency
RS1388481192 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1388484958 CRB2 Health Risk Pathogenic Focal segmental glomerulosclerosis 9, Focal segmental glomerulosclerosis 9
RS1388493177 SCARB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome
RS1388493955 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS1388500583 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS138850232 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS138850364 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1388510409 ABCA4 Health Risk Pathogenic —
RS138851422 EXTL3 Health Risk Conflicting classifications of pathogenicity —
RS1388515349 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1388517943 HSD3B2 Health Risk Pathogenic Congenital adrenal hyperplasia, Congenital adrenal hyperplasia
RS1388523736 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome, Kabuki syndrome
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