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
RS747685252 TRIM32 Health Risk Pathogenic/Likely pathogenic Limb-girdle muscular dystrophy, Bardet-Biedl syndrome
RS747685515 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747686377 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS747687191 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS747688660 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS747689685 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS747689845 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747691921 POMGNT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS747692385 PIGK Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
RS747692546 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS747694453 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS747694886 FGFR3 Health Risk Conflicting classifications of pathogenicity Classic Hodgkin lymphoma, Classic Hodgkin lymphoma
RS747695245 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS747695999 KCNB2 Health Risk Conflicting classifications of pathogenicity Uterine carcinosarcoma, Uterine carcinosarcoma
RS747696546 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Inborn genetic diseases
RS747699128 NPHP4 Health Risk Likely pathogenic Senior-Loken syndrome 4, Nephronophthisis 4
RS747700106 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS747700126 PEPD Health Risk Pathogenic/Likely pathogenic Prolidase deficiency, Prolidase deficiency
RS747700209 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747701761 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS747701845 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis Imperfecta, Recessive
RS747702749 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS747703354 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS747704211 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS747704276 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Atrial fibrillation
RS747704697 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS747706524 CIC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 45
RS747708863 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS747709330 APC2 Health Risk Conflicting classifications of pathogenicity —
RS747709527 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS747710152 TCTN3 Health Risk Pathogenic Orofacial-digital syndrome IV, Joubert syndrome 18
RS747710308 LAMA1 Health Risk Conflicting classifications of pathogenicity Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS747710478 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS747710683 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS747711259 NTRK1 Health Risk Pathogenic/Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Charcot-Marie-Tooth disease
RS747711431 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS747711488 CSTA Health Risk Pathogenic Peeling skin syndrome 4, Peeling skin syndrome 4
RS747712363 ASXL3 Health Risk Conflicting classifications of pathogenicity Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS747712653 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS747713309 CR2 Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable
RS747713348 TECTA Health Risk Conflicting classifications of pathogenicity TECTA-related disorder, TECTA-related disorder
RS747713899 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS747713929 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS747714077 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS747714452 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Inborn genetic diseases
RS747714932 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS747715399 GALE Health Risk Likely pathogenic UDPglucose-4-epimerase deficiency, Thrombocytopenia 13
RS747715551 HK1 Health Risk Pathogenic —
RS747717847 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS747718173 VPS13D Health Risk Pathogenic —
RS747718728 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS747719105 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS747719953 ANO5 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS747721259 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS747721968 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS747722195 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS747722455 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS747723062 GPNMB Health Risk Pathogenic Amyloidosis, primary localized cutaneous
RS747723074 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS747723242 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Congenital Muscular Dystrophy
RS747724352 HSD17B3 Health Risk Pathogenic Pseudohermaphroditism, Pseudohermaphroditism
RS747725187 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS747726149 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS747727055 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS747727493 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS747727600 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS747727601 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS74772771 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy
RS747728381 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS747728399 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS747728554 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS747729019 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS747729228 TBCD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Gastric cancer
RS747731841 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS747732620 NRAS Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS747732980 SEPSECS Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
RS747734015 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS747734639 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS747737281 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS747737475 NARS1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with microcephaly, impaired language
RS747737869 FRRS1L Health Risk Pathogenic Developmental and epileptic encephalopathy, 37
RS747738988 EPCAM Health Risk Pathogenic/Likely pathogenic Congenital diarrhea 5 with tufting enteropathy, Congenital diarrhea 5 with tufting enteropathy
RS747739571 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747739911 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder
RS747740477 MKS1 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS747740545 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS747742961 MAP2K2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS747743815 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS747744094 DGUOK Health Risk Pathogenic —
RS747745016 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, RASA1-related disorder
RS747745685 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Polycystic kidney disease 4
RS747746632 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS747747269 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS747748537 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS747748647 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS74774946 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS747749610 VIPAS39 Health Risk Pathogenic/Likely pathogenic Arthrogryposis, renal dysfunction
RS747750958 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS747751038 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS747751954 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
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