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
RS770758833 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS770759922 SIX6 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS770760147 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS770760322 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770760366 GOSR2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS770761070 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS770761082 CPAMD8 Health Risk Pathogenic —
RS770761140 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS770761461 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS770761607 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS770762282 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS770762358 LZTR1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 10, Cardiovascular phenotype
RS770763142 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS770764473 MYO5B Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 1, Cholestasis
RS770764947 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS770767998 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS770768585 TMEM107 Health Risk Pathogenic —
RS770769237 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS770769275 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS770769655 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS770770257 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS770771182 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS770771227 RAG1 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency
RS770771466 TSEN34 Health Risk Conflicting classifications of pathogenicity —
RS770772281 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS770772909 ASAH1 Health Risk Conflicting classifications of pathogenicity Farber lipogranulomatosis, Farber lipogranulomatosis
RS770774477 CEP55 Health Risk Pathogenic —
RS770775549 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS770775791 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS770776262 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Neoplasm
RS770776910 POU3F4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770777125 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS770777381 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770777508 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS770778046 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS770778096 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS770778299 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS770779418 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS770779546 HECW2 Health Risk Conflicting classifications of pathogenicity —
RS770780171 GLMN Health Risk Pathogenic/Likely pathogenic Venous malformation, Glomuvenous malformation
RS770780241 C2 Health Risk Pathogenic Complement component 2 deficiency, Complement component 2 deficiency
RS770780478 PDZD8 Health Risk Pathogenic Intellectual developmental disorder with autism and dysmorphic facies, Intellectual developmental disorder with autism and dysmorphic facies
RS77078070 KLHL7 Health Risk Conflicting classifications of pathogenicity PERCHING syndrome, Bohring-Opitz-like syndrome
RS770780848 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS770781571 SOS2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Noonan syndrome 9
RS770781635 TPO Health Risk Pathogenic Deficiency of iodide peroxidase, Congenital hypothyroidism
RS770782111 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder
RS770782663 ARL3 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 35, Joubert syndrome 35
RS770783327 EPAS1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS770784804 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS770785915 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS770786127 CNGB3 Health Risk Pathogenic Achromatopsia, Achromatopsia 3
RS770786986 DNASE1L3 Health Risk Conflicting classifications of pathogenicity Autosomal systemic lupus erythematosus type 16, Autosomal systemic lupus erythematosus type 16
RS770787472 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS770788013 MAG Health Risk Pathogenic Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
RS770788088 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS770789015 ASH1L Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 52
RS770789297 SPTB Health Risk Pathogenic —
RS770789595 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS770789859 COL9A1 Health Risk Pathogenic Epiphyseal dysplasia, multiple
RS770789888 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS770791374 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS770791406 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Hearing loss
RS770791666 KIAA0753 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770791825 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS770792425 MED25 Health Risk Conflicting classifications of pathogenicity Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Charcot-Marie-Tooth disease type 2B2
RS770792767 SUOX Health Risk Likely pathogenic Sulfite oxidase deficiency, Sulfocysteinuria
RS770792971 SLC27A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770793156 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS770793505 PAK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770793845 AMN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS770794109 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS770795599 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Familial spontaneous pneumothorax
RS770796008 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease type I, Gaucher disease type II
RS770796119 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS770797137 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS770798048 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770798435 DSPP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770798845 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS770798851 IDH3A Health Risk Pathogenic Retinitis pigmentosa 90, Retinitis pigmentosa 90
RS770799201 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS770799584 CYP1B1 Health Risk Pathogenic/Likely pathogenic Glaucoma 3A, Glaucoma 3A
RS770800096 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS770800835 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS770800903 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS770800988 ATR Health Risk Pathogenic —
RS770801300 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS770801747 SCN3B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 7, Cardiovascular phenotype
RS770802595 LARS1 Health Risk Pathogenic Infantile liver failure syndrome 1, Infantile liver failure syndrome 1
RS770802920 DGUOK Health Risk Pathogenic —
RS770802961 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770803375 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability
RS770803386 SLC34A3 Health Risk Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS770803581 FBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital contractural arachnodactyly
RS770803750 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS770804438 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS770804811 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS770804941 WDR72 Health Risk Pathogenic/Likely pathogenic Amelogenesis imperfecta, Amelogenesis imperfecta hypomaturation type 2A3
RS770807444 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS770810694 AQP2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
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