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
RS373727071 KCNQ4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS373727223 WDR91 Health Risk Pathogenic Neurodevelopmental disorder with brain malformations and multiple congenital anomalies, Neurodevelopmental disorder with brain malformations and multiple congenital anomalies
RS373727231 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS373727297 SNX27 Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS3737274 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS373727636 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS373728971 SPTBN2 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14
RS373729203 ABCA3 Health Risk Conflicting classifications of pathogenicity Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS373730126 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS373730163 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS373730381 MYBPC3 Health Risk Pathogenic Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS373730762 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS373730800 SBDS Health Risk Pathogenic/Likely pathogenic Shwachman-Diamond syndrome 1, Aplastic anemia
RS3737311 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS373731336 SDHC Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS373731411 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS373731440 SAMHD1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS373731596 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS373732722 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373732822 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373733344 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related disorder
RS373734529 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Stickler syndrome type 2
RS373734886 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS373735128 PPA2 Health Risk Conflicting classifications of pathogenicity Sudden cardiac failure, alcohol-induced
RS373735518 MMP13 Health Risk Conflicting classifications of pathogenicity Metaphyseal anadysplasia, Spondyloepimetaphyseal dysplasia
RS373736765 CYP11B1 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase
RS373736975 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS373737641 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS373737642 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS373738818 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373739301 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS373739940 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS373740172 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS373740199 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal dominant 4
RS373740752 CACNA1D Health Risk Conflicting classifications of pathogenicity Sinoatrial node dysfunction and deafness, Inborn genetic diseases
RS373741115 THBD Health Risk Conflicting classifications of pathogenicity Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
RS373741172 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS373741981 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS373742012 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS373742688 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS373742788 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 25
RS373743022 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373744120 SALL1 Health Risk Conflicting classifications of pathogenicity Townes-Brocks syndrome 1, Townes syndrome
RS373744231 MYH14 Health Risk Conflicting classifications of pathogenicity —
RS373744314 VCL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS373744398 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, DYSF-related disorder
RS373744776 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS373745258 KCNJ1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 2, Bartter disease type 2
RS373746463 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS373748121 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary ataxia
RS373748155 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS373749900 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS373749995 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS373750743 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS373751051 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS373751183 MIPEP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS3737515 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS3737521 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS373753003 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS373753637 MRAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MRAS-related disorder
RS373753660 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS373754367 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS373755380 FREM1 Health Risk Conflicting classifications of pathogenicity FREM1-related disorder, BNAR syndrome
RS373755483 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS373759014 FAT3 Health Risk Conflicting classifications of pathogenicity —
RS373759640 XDH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary xanthinuria type 1
RS373760993 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS373761090 JUP Health Risk Likely pathogenic Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS373761833 MYO7A Health Risk Pathogenic —
RS373762102 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS373762653 XPA Health Risk Conflicting classifications of pathogenicity XPA-related disorder, XPA-related disorder
RS373762948 IQCB1 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 5, Nephronophthisis
RS373763986 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS373764821 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS373765150 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS373765469 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS373766090 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS373766973 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS373767199 CFHR4 Health Risk Conflicting classifications of pathogenicity —
RS373767220 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS373767482 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS373768055 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS373768157 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS373768300 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS373768478 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS373770383 TTN Health Risk Conflicting classifications of pathogenicity —
RS373770404 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS373770886 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS373771053 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, ACAT1-related disorder
RS373771648 SPEG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373772212 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome
RS373772491 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS373772596 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS373773552 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373774032 ASNS Health Risk Pathogenic/Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Inborn genetic diseases
RS373775407 FMO3 Health Risk Conflicting classifications of pathogenicity Trimethylaminuria, Trimethylaminuria
RS373775562 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Oculocutaneous albinism
RS373776053 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C
RS373776747 GFM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373777402 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
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