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
RS2013260314 NFIX Health Risk Pathogenic —
RS201326247 TGM6 Health Risk Conflicting classifications of pathogenicity —
RS201326258 TTN Health Risk Conflicting classifications of pathogenicity —
RS201326295 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS2013265950 NFIX Health Risk Pathogenic/Likely pathogenic Intellectual disability, Malan overgrowth syndrome
RS201326654 LRIG2 Health Risk Conflicting classifications of pathogenicity —
RS2013267134 NFIX Health Risk Likely pathogenic Marshall-Smith syndrome, Marshall-Smith syndrome
RS201326893 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS201327209 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS201327273 MYH6 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS201327410 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS201327438 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS201327474 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS201327538 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS201327923 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Vitreoretinopathy
RS201328038 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS201328043 OTOGL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201328344 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS201328537 MME Health Risk Pathogenic/Likely pathogenic —
RS201328637 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS201328768 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS201328910 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Seizures
RS201329629 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Bilateral sensorineural hearing impairment
RS201329683 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Inborn genetic diseases
RS201329929 DVL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201330165 HOMER2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, HOMER2-related disorder
RS201330184 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201330213 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS201330335 DIABLO Health Risk Conflicting classifications of pathogenicity —
RS201330472 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS201330496 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201330912 CLCN2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy
RS201331131 COQ8A Health Risk Conflicting classifications of pathogenicity —
RS201331183 ADAR Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
RS201331677 SLC34A1 Health Risk Conflicting classifications of pathogenicity Nephrolithiasis, Nephrocalcinosis
RS201331870 SLC9A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory sodium diarrhea 8, SLC9A3-related disorder
RS201332059 GNAS Health Risk Conflicting classifications of pathogenicity GNAS-related disorder, GNAS-related disorder
RS201332554 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS201332560 ATP5F1A Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B
RS201332711 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS201333022 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS201333400 XYLT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, XYLT2-related disorder
RS201333414 POMGNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS201333795 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS201334104 CRPPA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS201334214 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS201334592 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS201334605 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, See cases
RS201334685 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS201335006 FLNC Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 26
RS201335263 HERC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201335448 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS201335536 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases
RS201335653 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Inborn genetic diseases
RS201335839 CTSB Health Risk Conflicting classifications of pathogenicity —
RS201335857 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS201335965 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS201336129 KLHL40 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Inborn genetic diseases
RS201336247 CEL Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Maturity-onset diabetes of the young type 8
RS201336602 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS201336927 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS201336952 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, AIPL1-related disorder
RS201337011 MYH14 Health Risk Conflicting classifications of pathogenicity Uterine corpus endometrial carcinoma, Autosomal dominant nonsyndromic hearing loss 4A
RS201337439 SDHD Health Risk Conflicting classifications of pathogenicity Cowden syndrome 3, Carney-Stratakis syndrome
RS201337492 GABRA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201337732 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS201337786 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201337850 MRPS22 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS201337954 NGLY1 Health Risk Pathogenic/Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation 1
RS201338034 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS201338083 NLRP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201338722 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS201338900 TGM6 Health Risk Conflicting classifications of pathogenicity Polyneuropathy, Spinocerebellar ataxia type 35
RS201338939 TRPM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201339444 NSDHL Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS201340219 ANO10 Health Risk Conflicting classifications of pathogenicity —
RS201340295 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS201340369 KCND3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS201340993 TNNI3K Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Atrial conduction disease
RS201341037 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B
RS201341132 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS201341279 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS201341558 KATNIP Health Risk Likely pathogenic KATNIP-related disorder, KATNIP-related disorder
RS201341594 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS201341924 CNGA1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS201342234 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS201342416 BSND Health Risk Conflicting classifications of pathogenicity Bartter disease type 4A, Bartter syndrome
RS201342438 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS201342697 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS201343293 FOXP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201343342 PMS2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS201343487 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS201343662 RUBCN Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 15, Sarcoma
RS201343697 PHEX Health Risk Conflicting classifications of pathogenicity —
RS201343844 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS201343910 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS201343933 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS201344377 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Transcobalamin II deficiency
RS201344475 PCLO Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 3, PCLO-related disorder
RS201344762 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
« Prev 1 ... 1472 1473 1474 1475 1476 1477 1478 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →