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
RS762368526 CP Health Risk Pathogenic Deficiency of ferroxidase, CP-related disorder
RS762368691 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS762369288 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS762369653 NDUFS1 Health Risk Pathogenic —
RS762370059 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS762370783 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS762371581 NPHP4 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 4, Senior-Loken syndrome 4
RS762371629 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS762372863 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS762374961 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS762375074 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, MAN2B1-related disorder
RS762376423 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS762376719 HYDIN Health Risk Pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS762377424 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS762379051 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS762379765 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS762380973 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS762381137 CASQ2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS762381405 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS762382027 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS762382111 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS762382303 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS762382517 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS762382791 RP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762382800 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS762383370 TF Health Risk Conflicting classifications of pathogenicity Atransferrinemia, Atransferrinemia
RS762383457 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS762383656 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS762384558 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS762384825 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rapadilino syndrome
RS762385137 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS762385362 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS762387250 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS762387914 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS762388072 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39
RS762388639 VAC14 Health Risk Pathogenic Striatonigral degeneration, childhood-onset
RS762388937 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS762389271 NALCN Health Risk Likely pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS762389933 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, GPR179-related disorder
RS762390227 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS762390488 VPS13A Health Risk Pathogenic —
RS762390984 FANCI Health Risk Pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS762392183 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome
RS762393900 ARSL Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata, brachytelephalangic
RS762394148 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS762394421 CACNB4 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Episodic ataxia type 5
RS762394978 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS762395098 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS762395127 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS762396014 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS762396810 RBBP8 Health Risk Likely pathogenic Seckel syndrome 2, Seckel syndrome 2
RS762397075 ALG12 Health Risk Pathogenic/Likely pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS762397298 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS762398286 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS762398457 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS762398743 NDUFAF3 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 18
RS762398889 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS762398929 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS762399773 COL4A5 Health Risk Pathogenic —
RS762399936 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Hurler syndrome
RS762399977 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHD7-related disorder
RS762400331 NEU1 Health Risk Pathogenic/Likely pathogenic Sialidosis, Sialidosis
RS762400500 FBN1 Health Risk Conflicting classifications of pathogenicity 6 conditions, Marfan syndrome
RS762401591 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS762401851 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS762402822 TRDN Health Risk Pathogenic Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS762402992 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS762403277 ZBTB18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762403314 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS762403631 NUP93 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 12
RS762404021 EVC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Curry-Hall syndrome
RS762404960 POMK Health Risk Conflicting classifications of pathogenicity Limb-girdle muscular dystrophy due to POMK deficiency, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS762405291 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 26
RS762406098 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS762406780 FMC1;FMC1-LUC7L2;LUC7L2 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS762406949 A2ML1 Health Risk Conflicting classifications of pathogenicity Otitis media, susceptibility to
RS762406982 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS762407683 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762407803 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS762407838 RAG2 Health Risk Conflicting classifications of pathogenicity Histiocytic medullary reticulosis, Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency
RS762408471 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2
RS762408726 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS762408736 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS762409067 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS762409753 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS762411583 IDUA Health Risk Pathogenic Mucopolysaccharidosis, MPS-I-S
RS762411631 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS762412096 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS762412447 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS762412759 CYP11A1 Health Risk Pathogenic Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS762413841 LRPPRC Health Risk Conflicting classifications of pathogenicity —
RS762416121 MCM8 Health Risk Pathogenic Premature ovarian failure 10, Premature ovarian failure 10
RS762417023 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS762419044 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS762419846 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS762420580 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762421117 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS762422694 UBR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762422999 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS762423563 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
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