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
RS1174359623 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS117436649 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax
RS1174367006 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS1174369347 MARVELD2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
RS117440321 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1174403532 SGCG Health Risk Conflicting classifications of pathogenicity Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS117440569 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, IGF1R-related disorder
RS1174406807 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS1174417447 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1174425209 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS1174428350 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Inborn genetic diseases
RS1174434961 CNTN1 Health Risk Pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS1174436721 TBCK Health Risk Likely pathogenic Hypotonia, infantile
RS1174443228 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS117447044 SLC10A2 Health Risk Conflicting classifications of pathogenicity SLC10A2-related disorder, SLC10A2-related disorder
RS1174471791 POLE Health Risk Pathogenic —
RS1174473779 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1174478035 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1174482090 TRAPPC9 Health Risk Pathogenic Intellectual disability, autosomal recessive 13
RS1174482121 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1174490072 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1174495581 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1174503300 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Monogenic hearing loss
RS1174536251 CAMTA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1174537633 PIGA Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 2, Multiple congenital anomalies-hypotonia-seizures syndrome 2
RS1174553107 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS117456384 TSEN54 Health Risk Conflicting classifications of pathogenicity —
RS1174570887 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1174579740 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1174584850 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1174586234 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1174587137 SKIC3 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS1174593640 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1174594143 KIAA0586 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 23
RS1174601545 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS117460214 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS117461489 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1174615027 C2CD3 Health Risk Likely pathogenic Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14
RS1174625611 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS1174648906 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS117465019 TBX3 Health Risk Conflicting classifications of pathogenicity Ulnar-mammary syndrome, TBX3-related disorder
RS1174664470 UNC80 Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS117468095 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS1174684647 STAMBP Health Risk Likely pathogenic —
RS1174698466 TCTN3 Health Risk Likely pathogenic Joubert syndrome 18, Orofacial-digital syndrome IV
RS1174707423 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1174712970 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1174717913 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS1174721130 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1174735558 GM2A Health Risk Likely pathogenic —
RS117473658 KLHL24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KLHL24-related disorder
RS117475706 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, ANK3-related disorder
RS117475774 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS1174760610 CIC Health Risk Conflicting classifications of pathogenicity —
RS1174765635 AAAS Health Risk Conflicting classifications of pathogenicity Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS1174791046 TRMU Health Risk Pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
RS1174797887 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS117480635 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1174809043 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1174824621 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS117483056 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, ALOX12B-related disorder
RS1174834630 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1174846895 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1174849391 HPS3 Health Risk Pathogenic —
RS117485407 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases
RS1174857008 TET3 Health Risk Conflicting classifications of pathogenicity Beck-Fahrner syndrome, TET3 deficiency
RS1174858706 VPS13A Health Risk Pathogenic —
RS1174866478 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1174882036 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1174918583 RAG2 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Combined immunodeficiency with skin granulomas
RS1174920993 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1174927168 VCAN Health Risk Conflicting classifications of pathogenicity —
RS1174927393 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1174933176 GDAP1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS1174934975 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1174944521 HGSNAT Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Mucopolysaccharidosis
RS1174949678 SH3TC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS1174949911 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1174958403 SLC34A1 Health Risk Pathogenic Hypercalcemia, infantile
RS1174962210 ALG3 Health Risk Conflicting classifications of pathogenicity ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS117497341 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1175013945 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS117502839 MYLK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiomyopathy
RS1175039425 SLC52A2 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2, Auditory neuropathy spectrum disorder
RS1175050951 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS1175052474 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome, Moderate albuminuria
RS1175086236 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1175109245 LPIN2 Health Risk Pathogenic —
RS1175117475 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, SUOX-related disorder
RS1175129177 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 25
RS1175129581 SLC5A5 Health Risk Likely pathogenic —
RS1175132161 KIF2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS117516263 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS1175177178 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1175183896 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS1175188961 SPAG1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 28, Primary ciliary dyskinesia
RS1175196087 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS1175214174 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS117522010 CNGA3 Health Risk Likely pathogenic Cone dystrophy, Cone dystrophy
RS1175230246 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
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