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
RS749464836 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS749464972 WDPCP Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS749465060 MITF Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A
RS749465098 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS749465132 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS749465164 ALPK3 Health Risk Pathogenic Cardiomyopathy, familial hypertrophic 27
RS749465732 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS749466673 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS749468605 AQP2 Health Risk Likely pathogenic Diabetes insipidus, nephrogenic
RS749468712 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS749469486 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS749469874 EIF2B5 Health Risk Likely pathogenic Vanishing white matter disease, Vanishing white matter disease
RS749471277 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS749471737 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS749472361 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, ATP7B-related disorder
RS749472520 MERTK Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS749473441 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS749473632 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS749474186 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS749474432 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, Inborn genetic diseases
RS749475908 KMT2D Health Risk Conflicting classifications of pathogenicity KMT2D-related disorder, Kabuki syndrome
RS749475936 KIAA0586 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS749476176 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS749476593 MOGS Health Risk Pathogenic MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS749477738 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS749478956 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS749479682 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS749479992 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS749480979 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS749481247 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS749481321 TCTN1 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS749481781 JAK3 Health Risk Pathogenic/Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS749483911 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Inborn genetic diseases
RS749484350 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS749484470 ALG5 Health Risk Pathogenic Polycystic kidney disease 7, Gastric cancer
RS749484478 SERPING1 Health Risk Conflicting classifications of pathogenicity —
RS749484691 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS749484894 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS749484938 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS749485360 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13
RS749485755 BMPR2 Health Risk Pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS749485884 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS749486726 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS749487037 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS749487379 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS749487441 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS749488054 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS749488943 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749489444 CD46 Health Risk Pathogenic —
RS749490263 MTHFR Health Risk Pathogenic/Likely pathogenic Intellectual disability, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS749490844 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS749491616 ACADS Health Risk Pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS749491943 TMC1 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 7
RS749494588 IL6R Health Risk Conflicting classifications of pathogenicity —
RS749494645 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N
RS749494995 ASH1L Health Risk Pathogenic Intellectual disability, autosomal dominant 52
RS749495580 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS749495615 ASXL1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS749495704 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS749496136 LMNB2 Health Risk Conflicting classifications of pathogenicity Lipodystrophy, partial
RS749496192 LAMC3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS749496245 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS749496657 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS749497185 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS749497447 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS749497678 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS749498958 SMG9 Health Risk Pathogenic Neurodevelopmental disorder with intention tremor, pyramidal signs
RS749499150 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS749499293 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS749499960 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS749500174 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS749501410 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS749503755 EPHB4 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS749503841 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS749504112 COQ4 Health Risk Pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS749504196 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS749506103 MED17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749507212 OTOA Health Risk Conflicting classifications of pathogenicity —
RS749508254 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS749508276 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS749508862 TRMU Health Risk Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS749508948 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749509242 TYRP1 Health Risk Pathogenic —
RS749509412 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS749509618 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, PCCB-related disorder
RS749509661 CUL7 Health Risk Pathogenic Inborn genetic diseases, 3M syndrome 1
RS749509886 HIVEP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 43
RS749511015 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS749511928 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749512075 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS749512704 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS749512886 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS749512960 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS749513254 DLL3 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 1, autosomal recessive
RS749515743 MATN3 Health Risk Likely pathogenic Osteoarthritis susceptibility 2, Osteoarthritis susceptibility 2
RS749515977 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS749516565 CFI Health Risk Pathogenic —
RS749516893 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS749519562 COL7A1 Health Risk Conflicting classifications of pathogenicity COL7A1-related disorder, Inborn genetic diseases
RS749520022 A2ML1 Health Risk Conflicting classifications of pathogenicity —
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