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
RS33971440 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS33971634 HBB Health Risk Pathogenic Dominant beta-thalassemia, Dominant beta-thalassemia
RS33972047 HBB Health Risk Pathogenic HEMOGLOBIN MALAY, BETA-PLUS-THALASSEMIA
RS33972593 HBB Health Risk Likely pathogenic HEMOGLOBIN BRISBANE, HEMOGLOBIN GREAT LAKES
RS33974936 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS33975915 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Inborn genetic diseases
RS33977363 HBA1 Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN WINNIPEG, HEMOGLOBIN WINNIPEG
RS33978134 HBA1 Health Risk Likely pathogenic HEMOGLOBIN MILLEDGEVILLE, Erythrocytosis
RS33978338 HBB Health Risk Likely pathogenic HEMOGLOBIN CHEVERLY, HEMOGLOBIN ARTA
RS33978901 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 2, von Willebrand disease type 1
RS33978907 HBB Health Risk Pathogenic BETA-PLUS-THALASSEMIA, BETA-PLUS-THALASSEMIA
RS33979901 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS33980857 HBB Health Risk Pathogenic BETA-PLUS-THALASSEMIA, beta Thalassemia
RS33981098 HBB Health Risk Pathogenic BETA-PLUS-THALASSEMIA, beta Thalassemia
RS33981325 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS33982568 HBB Health Risk Conflicting classifications of pathogenicity Beta zero thalassemia, beta Thalassemia
RS33983205 HBB Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN DEER LODGE, HEMOGLOBIN DEER LODGE
RS33983276 HBB Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN KHARTOUM, Hemoglobinopathy
RS33983416 HBA2 Health Risk Pathogenic; other HEMOGLOBIN COLUMBIA MISSOURI, Erythrocytosis
RS33985472 HBB Health Risk Pathogenic BETA-PLUS-THALASSEMIA, beta Thalassemia
RS33985544 HBB Health Risk Likely pathogenic HEMOGLOBIN ZURICH, Hemoglobinopathy
RS33985574 HBA2 Health Risk Pathogenic; other HEMOGLOBIN J (BUDA), Erythrocytosis
RS33986703 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS33987053 HBA2 Health Risk Conflicting classifications of pathogenicity alpha Thalassemia, alpha Thalassemia
RS33987903 HBB Health Risk Pathogenic; other HEMOGLOBIN HELSINKI, Erythrocytosis
RS33987957 HBB Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN BEOGRAD, HEMOGLOBIN D (CAMPERDOWN)
RS33991059 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS33991294 HBB Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN J (IRAN), HEMOGLOBIN J (IRAN)
RS33991779 HBA1 Health Risk Pathogenic; other HEMOGLOBIN CHESAPEAKE, Erythrocytosis
RS33991910 HBA1 Health Risk Pathogenic; other HEMOGLOBIN NUNOBIKI, Erythrocytosis
RS33991993 HBB Health Risk Likely pathogenic HEMOGLOBIN PROVIDENCE, Erythrocytosis
RS33993004 HBB Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN VILA REAL, Erythrocytosis
RS33993166 HBA1 Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN O (PADOVA), HEMOGLOBIN O (PADOVA)
RS33993568 HBB Health Risk Likely pathogenic HEMOGLOBIN D (IBADAN), beta Thalassemia
RS33994806 HBB Health Risk Likely pathogenic BETA-PLUS-THALASSEMIA, beta Thalassemia
RS33995148 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS33995463 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS33997263 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS33998064 CDH23 Health Risk Pathogenic —
RS33999427 HBB Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN TAK, Hemoglobinopathy
RS34000044 C9 Health Risk Pathogenic/Likely pathogenic Complement component 9 deficiency, Age related macular degeneration 15
RS34000644 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS34002892 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS34003473 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS34004222 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Optic nerve hypoplasia
RS34004854 MRTFA Health Risk Conflicting classifications of pathogenicity —
RS34008139 MAP3K6 Health Risk Likely pathogenic —
RS34013622 HBB Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS34014629 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS34016629 FREM2 Health Risk Pathogenic —
RS34018205 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder
RS34019119 AGA Health Risk Conflicting classifications of pathogenicity Aspartylglucosaminuria, Inborn genetic diseases
RS34019455 G6PC3 Health Risk Pathogenic Inherited Immunodeficiency Diseases, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS34021271 HBA1 Health Risk Pathogenic alpha Thalassemia, alpha Thalassemia
RS34028295 COX14 Health Risk Likely pathogenic —
RS34029285 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS34029390 HBB Health Risk Conflicting classifications of pathogenicity beta Thalassemia, HBB-related disorder
RS34030828 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia
RS34034503 LY75 Health Risk Conflicting classifications of pathogenicity —
RS34035085 UPB1 Health Risk Conflicting classifications of pathogenicity Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS34036746 ARHGEF10 Health Risk Conflicting classifications of pathogenicity Autosomal dominant slowed nerve conduction velocity, Gastric cancer
RS34040119 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS34041086 LRP2 Health Risk Conflicting classifications of pathogenicity LRP2-related disorder, LRP2-related disorder
RS34043251 FN1 Health Risk Conflicting classifications of pathogenicity Chronic kidney disease, Glomerulopathy with fibronectin deposits 2
RS34044042 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS34044544 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic nephrolithiasis/osteoporosis 1, Fanconi renotubular syndrome 2
RS34049451 RD3 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 12, Leber congenital amaurosis 12
RS34050897 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS34051360 LTBP4 Health Risk Conflicting classifications of pathogenicity —
RS34052957 LRP2 Health Risk Conflicting classifications of pathogenicity LRP2-related disorder, LRP2-related disorder
RS34055850 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS34057094 CLCF1 Health Risk Conflicting classifications of pathogenicity —
RS34061568 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS34065266 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS34069565 REN Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Familial juvenile hyperuricemic nephropathy type 2
RS34071195 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome
RS34071623 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Neuronopathy
RS34072093 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS34074602 LRP1 Health Risk Conflicting classifications of pathogenicity —
RS34075659 REC8 Health Risk Conflicting classifications of pathogenicity Non-obstructive azoospermia, Melanoma
RS34079299 IFNG Health Risk risk factor Aplastic anemia, susceptibility to
RS34081806 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 2, Martsolf syndrome
RS34082669 CANT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, CANT1-related disorder
RS34082929 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS34083085 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS34083951 HBB Health Risk Likely pathogenic HEMOGLOBIN SAINT ETIENNE, Beta-thalassemia HBB/LCRB
RS34084741 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Wiskott-Aldrich syndrome
RS34084984 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS34089426 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS34091239 RAD51 Health Risk Pathogenic Mirror movements 2, Mirror movements 2
RS34092089 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS34094720 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS34096980 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS34097903 PADI3 Health Risk Conflicting classifications of pathogenicity Central centrifugal cicatricial alopecia, Central centrifugal cicatricial alopecia
RS34098449 HBA1 Health Risk Conflicting classifications of pathogenicity —
RS34099398 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS34100397 GAD1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS34102501 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS34103564 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS34116584 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
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