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
RS771577373 CLASP1 Health Risk Likely pathogenic RNU4ATAC spectrum disorder, RNU4ATAC spectrum disorder
RS771578775 COQ8A Health Risk Pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS771579145 PTH1R Health Risk Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia
RS771580014 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS771581490 ATP13A2 Health Risk Likely pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS771581634 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS771581695 HDAC4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771583281 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS771583552 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS771583670 SLC25A13 Health Risk Likely pathogenic Citrin deficiency, Citrullinemia
RS771583813 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS771583869 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Multiple epiphyseal dysplasia
RS771584531 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS771585496 MTOR Health Risk Conflicting classifications of pathogenicity —
RS771585518 CETP Health Risk Conflicting classifications of pathogenicity —
RS771585795 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS771586218 PRKN Health Risk Pathogenic/Likely pathogenic Autosomal recessive juvenile Parkinson disease 2, Autosomal dominant Parkinson disease 1
RS771586413 PEX1 Health Risk Likely pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS771586458 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS771587211 ADAM9 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS771587242 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS771587252 CHRNA1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS771587260 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS771590165 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771590345 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS771590616 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS771591530 DCDC2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS77159278 CFHR5 Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II
RS771593278 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS771593783 ABCA12 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A
RS771594278 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS771594651 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia, Citrullinemia type I
RS771594710 NPHS1 Health Risk Pathogenic —
RS771594948 NIPBL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 1
RS771595064 DNAH9 Health Risk Pathogenic Non-immune hydrops fetalis, DNAH9-related disorder
RS771595125 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome
RS771595129 WFS1 Health Risk Conflicting classifications of pathogenicity Optic neuropathy, Optic neuropathy
RS771597781 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS771597876 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS771598053 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS771599029 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS771599539 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy
RS77160003 OPA1 Health Risk Likely pathogenic —
RS771600489 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS771600870 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS771602677 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS771603036 GNB1 Health Risk Conflicting classifications of pathogenicity —
RS771603042 LHX4 Health Risk Conflicting classifications of pathogenicity —
RS771603301 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS771603649 AHI1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Joubert syndrome
RS771603866 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS771604820 ERCC6 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 5, Cockayne syndrome type 2
RS771606350 FGD4 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4H
RS771606504 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS771606853 CAMK2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771606902 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS771607178 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS771608420 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS771608861 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS771610568 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS771610606 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS771610752 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS771612764 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS771612876 GUCY2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771613524 MAP2K1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome 1
RS771613805 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, LAMC2-related disorder
RS771613910 ROBO3 Health Risk Conflicting classifications of pathogenicity Gaze palsy, familial horizontal
RS771614823 RDH12 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 13
RS771617411 AGBL5 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS771618945 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS771619614 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS771620099 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder
RS771621178 CCNF Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
RS771621314 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS771622183 CDC14A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 32, Autosomal recessive nonsyndromic hearing loss 32
RS771622189 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS771622695 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS771623148 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS771623461 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS771623994 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Sensory ataxic neuropathy
RS771624663 OPHN1 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS771624962 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS771628836 ASAH1 Health Risk Likely pathogenic Uveal melanoma, Uveal melanoma
RS771628868 ARL6 Health Risk Pathogenic Retinitis pigmentosa 55, Bardet-Biedl syndrome 3
RS771629253 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS771632319 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS771632414 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS771632573 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS771634025 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS771634502 COL4A1 Health Risk Conflicting classifications of pathogenicity Hemorrhage, intracerebral
RS771635198 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771636070 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS771636342 SCN5A Health Risk Pathogenic —
RS771638958 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS771639486 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS77164005 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, CFTR-related disorder
RS771640361 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS771640639 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS771640767 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia
RS771641237 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
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