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
RS1447282271 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Intellectual disability
RS144729980 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group L
RS144730090 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS144730815 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS1447308562 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, BMPR1A-related disorder
RS144730861 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS1447311755 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS1447313633 ZNF142 Health Risk Pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Neurodevelopmental disorder with impaired speech and hyperkinetic movements
RS144731446 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Acute myeloid leukemia
RS144731702 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS144731880 CLDN16 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144732570 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS144732617 DNAH17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DNAH17-related disorder
RS144732839 OSGEP Health Risk Likely pathogenic Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3
RS144732922 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1447337068 PKP2 Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9
RS144733764 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS144734617 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144735319 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144735718 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS1447363475 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1447365901 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1447366650 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Phosphate transport defect
RS1447368316 CPT1C Health Risk Pathogenic Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS1447370088 VPS13A Health Risk Pathogenic —
RS144737770 ITPR3 Health Risk Conflicting classifications of pathogenicity —
RS1447379564 NKX2-1 Health Risk Pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS144738522 LAMA1 Health Risk Conflicting classifications of pathogenicity LAMA1-related disorder, LAMA1-related disorder
RS144738703 PRPF31 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1447391811 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Aortic valve disease 2
RS144739747 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, IGF1R-related disorder
RS144740011 LAMA5 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, LAMA5-related disorder
RS1447415684 TRIP11 Health Risk Likely pathogenic Connective tissue disorder, Connective tissue disorder
RS1447417010 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Malignant tumor of urinary bladder
RS1447421194 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS144743617 FTO Health Risk Conflicting classifications of pathogenicity Lethal polymalformative syndrome, Boissel type
RS144744182 PMPCB Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 6, PMPCB-related disorder
RS144744401 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Intellectual disability
RS144744629 CEP104 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 25, Joubert syndrome and related disorders
RS144744634 HMGCS2 Health Risk Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS1447447724 SLC9A3 Health Risk Pathogenic Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8
RS1447458978 UMOD Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Familial juvenile hyperuricemic nephropathy type 1
RS144746030 STIL Health Risk Conflicting classifications of pathogenicity Microcephaly 7, primary
RS1447463543 COL2A1 Health Risk Likely pathogenic Achondrogenesis type II, Achondrogenesis type II
RS1447465424 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS144746928 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS144747353 TBCE Health Risk Conflicting classifications of pathogenicity TBCE-related disorder, TBCE-related disorder
RS1447478732 VPS53 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E
RS144747878 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS144748043 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1447482674 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS144748816 PDYN Health Risk Conflicting classifications of pathogenicity —
RS144748846 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1447498742 OTUD5 Health Risk Conflicting classifications of pathogenicity OTUD5-related disorder, OTUD5-related disorder
RS1447499380 PERCC1 Health Risk Likely pathogenic Diarrhea 11, malabsorptive
RS144750655 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS144750850 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS144751116 IL21R Health Risk Conflicting classifications of pathogenicity Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Inborn genetic diseases
RS144751329 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS144751390 CTNS Health Risk Conflicting classifications of pathogenicity Nephropathic cystinosis, Ocular cystinosis
RS144751432 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Optic atrophy
RS1447523847 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1447532733 TRMU Health Risk Pathogenic —
RS144754979 LRAT Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 14, Retinitis pigmentosa
RS144755294 SLC16A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS1447556321 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS144756110 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Ovarian serous cystadenocarcinoma
RS144756403 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Inborn genetic diseases
RS1447564693 CHRNB1 Health Risk Pathogenic Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS144757200 PRICKLE2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy
RS144757214 MITF Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A
RS1447574915 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Drash syndrome
RS144758353 FARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS1447585760 VPS13A Health Risk Likely pathogenic —
RS144758871 SNCA Health Risk Conflicting classifications of pathogenicity Lewy body dementia, Autosomal dominant Parkinson disease 1
RS144759014 RASA2 Health Risk Conflicting classifications of pathogenicity —
RS144759209 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1447594194 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type II
RS144760517 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS144760921 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS1447609804 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS144761543 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, USH1C-related disorder
RS144761622 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1447618526 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS144761853 ADGRG4 Health Risk Conflicting classifications of pathogenicity —
RS144762739 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS1447628856 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1447633595 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS144763522 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS144764160 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS144764222 CYBB Health Risk Conflicting classifications of pathogenicity X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency, Granulomatous disease
RS144764663 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group B
RS144765020 SEC23A Health Risk Conflicting classifications of pathogenicity Craniolenticulosutural dysplasia, Craniolenticulosutural dysplasia
RS144765242 KCND2 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Inborn genetic diseases
RS1447653524 EVC Health Risk Pathogenic/Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS144766017 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Wagner disease
RS1447665588 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Deficiency of guanidinoacetate methyltransferase
RS1447665931 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS144766991 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS144767107 WDR72 Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta hypomaturation type 2A3, Amelogenesis imperfecta hypomaturation type 2A3
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