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
RS201366522 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS201366610 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Progressive muscular dystrophy
RS201366697 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS201367107 SERAC1 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria with deafness, encephalopathy
RS201367145 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201367228 CLDN16 Health Risk Conflicting classifications of pathogenicity Primary hypomagnesemia, Inborn genetic diseases
RS201367621 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, SCN4A-related disorder
RS201367689 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS201367852 TCTN3 Health Risk Conflicting classifications of pathogenicity Orofacial-digital syndrome IV, Joubert syndrome 18
RS201368043 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N
RS201368251 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, GPR179-related disorder
RS201369291 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS201369301 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201369319 SCNN1B Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 1, Liddle syndrome 1
RS201369510 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS201369756 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS201369986 DHTKD1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2Q, 2-aminoadipic 2-oxoadipic aciduria
RS201370020 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS201370265 PLEKHM2 Health Risk Conflicting classifications of pathogenicity —
RS201370621 RBM20 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1DD
RS201371180 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS201371526 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201371633 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Cardiovascular phenotype
RS201371848 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS201372074 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS201372127 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, Inborn genetic diseases
RS201372242 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, TRMU-related disorder
RS201372309 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS201372601 SDHD Health Risk Conflicting classifications of pathogenicity Mitochondrial complex 2 deficiency, nuclear type 3
RS201372812 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS201372895 CELSR2 Health Risk Conflicting classifications of pathogenicity —
RS201372985 LDHA Health Risk Pathogenic Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
RS201373228 OTOGL Health Risk Conflicting classifications of pathogenicity —
RS201373377 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS201373390 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, MTM1-related disorder
RS201373710 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, Gray platelet syndrome
RS201373953 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS201374182 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS201374540 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Lisch epithelial corneal dystrophy
RS201374643 CC2D1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS201374694 GTPBP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201374986 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS201375192 HCN4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 8
RS201375478 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neoplasm of stomach
RS201375579 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Epileptic spasm
RS201375881 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS201376169 SLC3A1 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS201376347 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS201376373 COLQ Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 5, COLQ-related disorder
RS201376381 LGI1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant epilepsy with auditory features, Inborn genetic diseases
RS201376463 ABL1 Health Risk Conflicting classifications of pathogenicity —
RS201376529 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS201376938 KIZ Health Risk Conflicting classifications of pathogenicity —
RS201377092 TACR3 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia
RS201377206 WDR19 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS201377447 VWF Health Risk Conflicting classifications of pathogenicity Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS201378067 SGCE Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS201378700 RNF125 Health Risk Conflicting classifications of pathogenicity Tenorio syndrome, Inborn genetic diseases
RS201379132 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201379287 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS201379514 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS201379680 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, HMCN1-related disorder
RS201379704 SCN4A Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 16, Hyperkalemic periodic paralysis
RS201379753 RPE65 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS201379782 IRF7 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 39, IRF7-related disorder
RS201380456 BOLA3 Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2
RS201380467 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS201380599 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS201380749 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201380807 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS201381014 TBR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder with autism and speech delay
RS201381045 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS201381085 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201381125 DENND4B Health Risk Conflicting classifications of pathogenicity Short stature, DENND4B-related disorder
RS201381498 COL18A1 Health Risk Conflicting classifications of pathogenicity COL18A1-related disorder, COL18A1-related disorder
RS201381687 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS201382018 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS201382038 PRF1 Health Risk Pathogenic/Likely pathogenic Aplastic anemia, Familial hemophagocytic lymphohistiocytosis
RS201382097 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS201382232 ERCC2 Health Risk Conflicting classifications of pathogenicity Trichothiodystrophy 1, photosensitive
RS201382399 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group F
RS201382676 GFAP Health Risk Conflicting classifications of pathogenicity GFAP-related disorder, GFAP-related disorder
RS201384282 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS201384449 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS201384469 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Microcephaly
RS201384608 NLRP3 Health Risk Conflicting classifications of pathogenicity Chronic infantile neurological, cutaneous and articular syndrome
RS201385707 PRKCSH Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 1, Inborn genetic diseases
RS201386161 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS201386186 BEST1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, BEST1-related disorder
RS201386427 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS201386557 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS201386642 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Hereditary pancreatitis
RS201386977 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS201387092 HERC1 Health Risk Conflicting classifications of pathogenicity HERC1-related disorder, HERC1-related disorder
RS201387261 SPTBN4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with hypotonia
RS201387324 RTN2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 12
RS201387537 B3GAT3 Health Risk Conflicting classifications of pathogenicity Larsen-like syndrome, B3GAT3 type
RS201387583 REN Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 2, Renal tubular dysgenesis
RS201387815 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS201387914 DOCK6 Health Risk Pathogenic Adams-Oliver syndrome 2, Inborn genetic diseases
« Prev 1 ... 1474 1475 1476 1477 1478 1479 1480 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →