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
RS770324764 COL12A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ullrich congenital muscular dystrophy 2
RS770324989 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome
RS770325118 UNC13D Health Risk Likely pathogenic Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 3
RS770325540 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS770326964 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS770327474 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Ovarian cancer
RS770328302 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS770328474 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS770329105 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS770329421 DLL3 Health Risk Pathogenic —
RS770330002 GJB2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, 7 conditions
RS770330684 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS770330940 HBG1 Health Risk Conflicting classifications of pathogenicity Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin
RS770331194 TNNC1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 13
RS770334094 ABCB4 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS770334508 ALPK3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS770334825 PCBD1 Health Risk Conflicting classifications of pathogenicity Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
RS770335133 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS770335248 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS770335539 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS770335717 ACTN2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS770336099 POLR2C Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS770336804 PDZD7 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal recessive 57
RS770336845 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770336997 FBXO11 Health Risk Likely pathogenic FBXO11-related disorder, FBXO11-related disorder
RS770338663 KCNA2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32
RS770339001 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS770339409 CFH Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Age related macular degeneration 4
RS770339628 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS770339741 NDUFS6 Health Risk Pathogenic —
RS770339774 IMPG2 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS770339981 SPG7 Health Risk Conflicting classifications of pathogenicity Spastic ataxia, Hereditary spastic paraplegia 7
RS770340227 SLC7A9 Health Risk Pathogenic/Likely pathogenic —
RS770340871 COL11A2 Health Risk Conflicting classifications of pathogenicity COL11A2-related disorder, COL11A2-related disorder
RS770341402 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS770341565 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS770341883 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS770343200 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS770344400 RPL3L Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, dilated
RS770344860 PNKP Health Risk Likely pathogenic Microcephaly, seizures
RS770345026 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS770346178 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS770347484 AKT2 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy
RS770347536 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770349910 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS770350755 ARID1B Health Risk Likely pathogenic —
RS770350986 VPS13A Health Risk Pathogenic —
RS770352358 ENPP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS770352403 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS770352640 KCNJ13 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 16, Leber congenital amaurosis 16
RS770352704 EXT1 Health Risk Conflicting classifications of pathogenicity Chondrosarcoma, Ovarian cancer
RS770353140 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS770354010 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS77035409 CFTR Health Risk Pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS770355472 GORAB Health Risk Pathogenic —
RS770355511 TUBG1 Health Risk Likely pathogenic Lissencephaly, Lissencephaly
RS770355592 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS770356071 LCAT Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Fish-eye disease
RS770356158 EYA1 Health Risk Conflicting classifications of pathogenicity Branchiootic syndrome 1, Otofaciocervical syndrome 1
RS770356174 BCL11A Health Risk Pathogenic Dias-Logan syndrome, Dias-Logan syndrome
RS770356922 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
RS770357627 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS770358039 SNX27 Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS770359368 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C
RS770361045 TRAPPC11 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS770362721 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS770362811 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS770363653 TBC1D24 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS770364064 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS770365711 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS770366755 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS770367814 C7 Health Risk Pathogenic/Likely pathogenic Complement component 7 deficiency, Complement component 7 deficiency
RS770368215 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS770368390 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS770368435 LZTR1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome 2, Cardiovascular phenotype
RS770368608 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS770368711 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS770368733 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770369582 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS770369588 SETD5 Health Risk Conflicting classifications of pathogenicity —
RS770369940 EDAR Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS770370694 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS770372103 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS770372463 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770372675 MYL4 Health Risk Likely pathogenic Atrial fibrillation, familial
RS770373926 MYLK Health Risk Conflicting classifications of pathogenicity See cases, Aortic aneurysm
RS770374058 TSFM Health Risk Pathogenic —
RS770374710 MAGEL2 Health Risk Pathogenic Schaaf-Yang syndrome, Inborn genetic diseases
RS770374782 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS770374931 SLC19A2 Health Risk Conflicting classifications of pathogenicity Megaloblastic anemia, thiamine-responsive
RS770375565 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS770375846 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS770377023 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS770377142 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS770377239 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS770379536 CYP21A2 Health Risk Likely pathogenic —
RS770380556 TRPM1 Health Risk Pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS770381040 TSC1 Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Tuberous sclerosis 1
RS770382841 QRICH2 Health Risk Pathogenic Spermatogenic failure 35, Spermatogenic failure 35
RS770383273 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
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