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
RS764326184 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS764326593 AP4M1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS764327751 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS764330337 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS764332870 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Inborn genetic diseases
RS764333096 NFIB Health Risk Pathogenic/Likely pathogenic Intellectual disability, Macrocephaly
RS764333715 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, Inborn genetic diseases
RS764333790 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS764334802 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Sitosterolemia 1
RS764334983 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS764335447 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS764337568 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS764337688 TDRD7 Health Risk Conflicting classifications of pathogenicity Cataract 36, Cataract 36
RS764337753 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS764338697 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, See cases
RS764338863 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS764339075 EXOSC8 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia, type 1C
RS764340351 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS764341143 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764342199 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS764342492 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS764342695 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS764343290 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS764343937 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS764344701 SECISBP2 Health Risk Likely pathogenic —
RS764346452 PEX7 Health Risk Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS76434661 GJB2 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Hearing impairment
RS764346736 LAMB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pierson syndrome
RS764346876 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS764347085 ICOSLG Health Risk Conflicting classifications of pathogenicity —
RS764347583 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS764348039 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS764349043 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS764349883 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS764352879 ASXL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764353299 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS764353860 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, Inborn genetic diseases
RS764354581 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS764354954 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS764355087 ABCA12 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4B
RS764355476 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS764355552 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS764356037 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS764356283 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS764356392 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS764356904 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS764357395 AGA Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Aspartylglucosaminuria
RS764358108 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS764358419 CHMP1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764358542 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS764359340 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS764360108 USH1C Health Risk Pathogenic —
RS764360302 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, Inborn genetic diseases
RS764362150 TULP1 Health Risk Conflicting classifications of pathogenicity —
RS764362221 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS764362617 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Familial isolated arrhythmogenic right ventricular dysplasia
RS764363274 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS764363798 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS764363889 MYH13 Health Risk Conflicting classifications of pathogenicity —
RS764364345 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS764364492 MANBA Health Risk Pathogenic/Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS764364981 GFM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764365066 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Inborn genetic diseases
RS764365348 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764366547 APOA5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS764367185 ADGRG1 Health Risk Pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS764367878 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS76436818 RNASEH2A Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4, Aicardi Goutieres syndrome
RS764368214 ABCA4 Health Risk Pathogenic —
RS764368218 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS764368324 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS764369378 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS764370512 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS764371254 MYO5A Health Risk Pathogenic Griscelli syndrome type 1, Griscelli syndrome type 1
RS764374133 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS764374251 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS764374356 CARMIL2 Health Risk Pathogenic —
RS764374591 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764374746 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS764374927 CHRND Health Risk Pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS764375446 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS764376138 COL4A3 Health Risk Pathogenic/Likely pathogenic Hematuria, benign familial
RS764376151 VPS13A Health Risk Pathogenic/Likely pathogenic VPS13A-related disorder, Chorea-acanthocytosis
RS764376758 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS764377335 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS764377394 PGM3 Health Risk Pathogenic Severe combined immunodeficiency disease, Immunodeficiency 23
RS764379119 EXT2 Health Risk Pathogenic Exostoses, multiple
RS764379398 TJP2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS764379478 CUBN Health Risk Likely pathogenic —
RS764379536 PNKP Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS764379691 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS764380346 IFIH1 Health Risk Likely pathogenic Immunodeficiency 95, Immunodeficiency 95
RS764380594 AQP2 Health Risk Pathogenic Nephrogenic diabetes insipidus, Nephrogenic diabetes insipidus
RS764380675 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS764381074 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, COL1A1-related disorder
RS764381126 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS764381446 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS764381544 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS764382519 DNAJC21 Health Risk Pathogenic —
RS764382536 MKKS Health Risk Pathogenic McKusick-Kaufman syndrome, McKusick-Kaufman syndrome
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