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
RS752783461 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS752783859 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS752784885 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS752784904 PRSS12 Health Risk Conflicting classifications of pathogenicity —
RS752785838 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS752786160 ABCA4 Health Risk Pathogenic/Likely pathogenic ABCA4-related disorder, Retinal dystrophy
RS752787097 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS752787691 DLC1 Health Risk Conflicting classifications of pathogenicity —
RS752788538 MITF Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS752789273 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS752789547 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752789551 GDF5 Health Risk Conflicting classifications of pathogenicity Grebe syndrome, Brachydactyly
RS752790319 TBCE Health Risk Pathogenic —
RS752791731 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS752791815 MC2R Health Risk Likely pathogenic —
RS752792782 NEK8 Health Risk Pathogenic Renal-hepatic-pancreatic dysplasia 2, Nephronophthisis 9
RS752792918 GLE1 Health Risk Pathogenic —
RS752793757 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS752793866 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS752794098 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS752794198 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS752794292 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS752795172 DNAAF2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS752795642 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS752797466 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Inborn genetic diseases
RS752797855 SCNN1B Health Risk Likely pathogenic SCNN1B-related disorder, SCNN1B-related disorder
RS752798191 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752798208 PIGA Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 2, PIGA-related disorder
RS752798426 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS752799249 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS752799441 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS752799569 MYO5B Health Risk Pathogenic —
RS752800134 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS752800292 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS752800376 CFD Health Risk Pathogenic Recurrent Neisseria infections due to factor D deficiency, Recurrent Neisseria infections due to factor D deficiency
RS752800577 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS752801065 MYBPC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752801557 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS752801920 ZMYND15 Health Risk Pathogenic Spermatogenic failure 14, Spermatogenic failure 14
RS752802453 SLC38A8 Health Risk Pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
RS752802795 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS752803039 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS752803584 INSR Health Risk Conflicting classifications of pathogenicity Leprechaunism syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS752804141 OTOF Health Risk Conflicting classifications of pathogenicity —
RS752804194 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS752805685 EPAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Asphyxiating thoracic dystrophy 3
RS752806166 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS752807804 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS752807925 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS752808238 EPCAM Health Risk Likely pathogenic Gastric cancer, EPCAM-related disorder
RS752808249 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS752808333 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS752809089 THBD Health Risk Conflicting classifications of pathogenicity —
RS752809310 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS752809792 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS752809798 SBDS Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS752809991 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS752810646 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS752810910 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, Inborn genetic diseases
RS752810960 DONSON Health Risk Pathogenic Meier-Gorlin syndrome, Meier-Gorlin syndrome
RS752811843 CYP17A1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS752812293 ACE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752812435 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS752812483 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS752816142 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS752816535 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS752817129 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS752818698 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Holoprosencephaly 11
RS752819814 CFAP52 Health Risk Likely pathogenic —
RS752819982 GYS2 Health Risk Likely pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS752819997 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS752820457 ARHGEF5 Health Risk Conflicting classifications of pathogenicity —
RS752820596 FAN1 Health Risk Conflicting classifications of pathogenicity Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS752820747 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases
RS752821359 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS752821481 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS75282171 KCNJ10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome
RS752823488 COL11A2 Health Risk Conflicting classifications of pathogenicity COL11A2-related disorder, COL11A2-related disorder
RS752824265 RAB7A Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2B, Charcot-Marie-Tooth disease type 2B
RS752824390 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS752824817 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS752824843 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS75282758 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS752827715 HPS4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hermansky-Pudlak syndrome 4
RS752829783 ZBTB20 Health Risk Likely pathogenic Primrose syndrome, Primrose syndrome
RS752829853 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS752830087 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS752830820 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS752831580 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS752833281 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS752833893 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS752833998 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS752834312 FLNB Health Risk Conflicting classifications of pathogenicity —
RS752836728 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS752837159 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, HPS3-related disorder
RS752837228 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS752837508 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS752837724 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS752838075 TOP3A Health Risk Pathogenic Microcephaly, growth restriction
RS752839113 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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