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
RS767036832 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767037207 F11 Health Risk Likely pathogenic —
RS767037296 L2HGDH Health Risk Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria, Inborn genetic diseases
RS767037992 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS767038068 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS767038093 RAI1 Health Risk Conflicting classifications of pathogenicity Vascular disorder, Vascular disorder
RS767038098 MPDZ Health Risk Pathogenic/Likely pathogenic Hydrocephalus, nonsyndromic
RS767039057 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS767039732 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS767041023 TUBB1 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia, isolated
RS767041069 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS767041085 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS767041100 ACAD8 Health Risk Pathogenic/Likely pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS767041933 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS767042342 TTBK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767043399 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS767043440 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS767044154 CYP11B2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Corticosterone 18-monooxygenase deficiency
RS767045134 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS767045208 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS767045832 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS767046464 CELSR3 Health Risk Likely pathogenic See cases, See cases
RS767046669 ALOXE3 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS767046886 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C
RS767047134 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, Inborn genetic diseases
RS767048520 AFF4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767048737 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS767048858 CHRNA1 Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS767049254 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Distal myopathy with anterior tibial onset
RS767050469 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS767050911 CDK10 Health Risk Pathogenic Al Kaissi syndrome, Al Kaissi syndrome
RS767051948 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa pruriginosa, Epidermolysis bullosa pruriginosa
RS767052015 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS767052156 CACNA1S Health Risk Pathogenic/Likely pathogenic Malignant hyperthermia, susceptibility to
RS767052591 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS76705400 MCM7 Health Risk Pathogenic Meier-Gorlin syndrome, Meier-Gorlin syndrome
RS767054899 KIF22 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS767055284 FBXL4 Health Risk Conflicting classifications of pathogenicity —
RS767056243 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS767057323 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, MYH9-related disorder
RS767058690 SHANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SHANK3-related disorder
RS767059758 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS767060533 GSDME Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
RS767060858 KYNU Health Risk Pathogenic/Likely pathogenic Congenital NAD deficiency disorder, Vertebral
RS767061831 IDH2 Health Risk Likely pathogenic D-2-hydroxyglutaric aciduria 2, D-2-hydroxyglutaric aciduria 2
RS767062387 MRPS16 Health Risk Conflicting classifications of pathogenicity —
RS767063118 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS767063709 TYMP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767063791 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS767065263 TMEM126B Health Risk Likely pathogenic TMEM126B-related disorder, Mitochondrial complex I deficiency
RS767066842 RTN2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, RTN2-related disorder
RS767066938 DHTKD1 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS767067922 SPTAN1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 5
RS767068264 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS767068756 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS767069606 CHCHD10 Health Risk Conflicting classifications of pathogenicity Lower motor neuron syndrome with late-adult onset, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
RS767069721 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS767070218 BMPR2 Health Risk Pathogenic/Likely pathogenic Pulmonary hypertension, primary
RS76707172 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS767071793 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS767071930 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS767072775 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS767072839 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS767072861 SRPX2 Health Risk Conflicting classifications of pathogenicity Rolandic epilepsy, intellectual disability
RS767073232 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS767073368 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767074039 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS767074176 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS767074769 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS767075044 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS767075372 MID1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767075719 PAH Health Risk Conflicting classifications of pathogenicity Phenylketonuria, Phenylketonuria
RS767076281 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS767077707 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS767078097 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS767078182 SLC30A9 Health Risk Conflicting classifications of pathogenicity Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome, Inborn genetic diseases
RS767078596 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS767078773 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS767078782 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS767078847 CUBN Health Risk Pathogenic/Likely pathogenic Proteinuria, chronic benign
RS767079113 NEB Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS767079173 FMO3 Health Risk Pathogenic/Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS767079858 TRPV4 Health Risk Pathogenic TRPV4-related bone disorder, TRPV4-related bone disorder
RS767080621 SIN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767081312 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767081660 FN1 Health Risk Conflicting classifications of pathogenicity FN1-related disorder, Glomerulopathy with fibronectin deposits 2
RS767083273 COL17A1 Health Risk Pathogenic —
RS767083685 CNGA3 Health Risk Conflicting classifications of pathogenicity —
RS767084290 MYH14 Health Risk Conflicting classifications of pathogenicity MYH14-related disorder, MYH14-related disorder
RS767084483 SKIC2 Health Risk Pathogenic Immunodeficiency 57, Immunodeficiency 57
RS767084659 NBAS Health Risk Pathogenic/Likely pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS767086146 WDR73 Health Risk Pathogenic Galloway-Mowat syndrome 1, Galloway-Mowat syndrome 1
RS767086387 MANBA Health Risk Likely pathogenic Beta-D-mannosidosis, Lung cancer
RS767086409 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS767086502 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Bloom syndrome
RS76708715 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS767087695 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS767088341 NPRL2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS767088377 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS767088664 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
« Prev 1 ... 3472 3473 3474 3475 3476 3477 3478 ... 4509 Next »

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

Get Started Free →