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
RS773900333 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS773900415 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS773901289 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS773901373 SRP72 Health Risk Conflicting classifications of pathogenicity —
RS773902080 DHDDS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 59
RS773902333 PLCE1 Health Risk Pathogenic —
RS773902766 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS773902879 GNB5 Health Risk Likely pathogenic Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Gnb5-related intellectual disability-cardiac arrhythmia syndrome
RS773903184 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS773904155 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, NSD1-related disorder
RS773904382 TTC19 Health Risk Pathogenic —
RS773904723 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS773905198 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Alport syndrome
RS773905328 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS773906241 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS773906955 RAD51D Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS773907258 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS773907372 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS773908359 POLE Health Risk Pathogenic —
RS773908617 ESCO2 Health Risk Pathogenic —
RS773908748 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS773909292 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, Inborn genetic diseases
RS773910322 LTBP2 Health Risk Likely pathogenic Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
RS773911334 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS773911500 CDC14A Health Risk Pathogenic —
RS773911591 TTPA Health Risk Conflicting classifications of pathogenicity Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS773911785 CPAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CENPJ-related disorder
RS773911916 AMPD2 Health Risk Pathogenic Hereditary spastic paraplegia 63, Hereditary spastic paraplegia 63
RS773913117 TCAP Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25
RS773913732 PPM1D Health Risk Likely pathogenic —
RS773913840 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS773914259 MARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
RS773914330 CRB1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 8
RS773914389 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS773914880 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS773915011 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS773916039 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS773916510 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773916549 TBC1D24 Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS773916713 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS773916730 SLC52A3 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1, SLC52A3-related disorder
RS773916846 WRAP53 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 3
RS773917653 NSMCE2 Health Risk Pathogenic Seckel syndrome 10, Seckel syndrome 10
RS773917688 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS773917703 STXBP2 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 5
RS773917768 SEMA3E Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 7 with or without anosmia
RS773918507 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS773918715 TWNK Health Risk Conflicting classifications of pathogenicity mitochondrial hepatopathy, mitochondrial hepatopathy
RS773919914 TDRD9 Health Risk Likely pathogenic Male infertility, Male infertility
RS773919926 CACNA1H Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Idiopathic generalized epilepsy
RS773920119 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Oculotrichoanal syndrome
RS773920155 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS773920224 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
RS773921234 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 18
RS773922257 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1
RS773922431 NKX2-5 Health Risk Pathogenic/Likely pathogenic Atrial septal defect 7, Atrial septal defect 7
RS773923999 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS773925755 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Ehlers-Danlos syndrome
RS773926246 CDH23 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Pituitary adenoma 5
RS773926521 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS773927616 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS773927620 USH2A Health Risk Pathogenic —
RS773927709 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS773927995 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS773929089 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS773929270 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS773929665 MAP3K14 Health Risk Pathogenic Immunodeficiency 112, Immunodeficiency 112
RS773929706 AP4E1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS773930292 PTPN23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
RS773930785 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1O
RS773930851 CACNA1C Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Long QT syndrome
RS773932446 COL7A1 Health Risk Pathogenic —
RS773933167 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS773933333 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS773933657 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS773934743 CAV3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiomyopathy
RS773934765 NPR2 Health Risk Likely pathogenic Acromesomelic dysplasia 1, Maroteaux type
RS773935049 SOS1 Health Risk Conflicting classifications of pathogenicity Fibromatosis, gingival
RS773935389 ARSL Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata, brachytelephalangic
RS773935807 COCH Health Risk Conflicting classifications of pathogenicity —
RS773935854 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS773936260 TUSC3 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS773937288 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS773937309 METTL23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS773937413 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS773937499 ATR Health Risk Pathogenic —
RS773937760 ETHE1 Health Risk Conflicting classifications of pathogenicity Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS773938208 FGFR1 Health Risk Conflicting classifications of pathogenicity FGFR1-related disorder, Hypogonadotropic hypogonadism 2 with or without anosmia
RS773940730 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS773941375 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS773942709 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1AA
RS773942795 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS773943113 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Atelosteogenesis type III
RS773943141 ATL1 Health Risk Likely pathogenic —
RS773943327 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS773943371 COQ4 Health Risk Conflicting classifications of pathogenicity Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS773944255 TWNK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773944918 ERCC6 Health Risk Pathogenic —
RS773945008 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS773945333 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
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