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
RS567375948 EFTUD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS567385461 LAMA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA2-related muscular dystrophy
RS567397762 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS567408550 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS567413750 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS567415895 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS567425336 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer
RS567433223 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS567435072 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS567437692 NUBPL Health Risk Conflicting classifications of pathogenicity Mitochondrial oxidative phosphorylation disorder, Mitochondrial complex I deficiency
RS567441242 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS567446185 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS567451018 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS567452162 ARHGEF18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS567476314 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS567478582 SLC3A1 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS567493750 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS567498111 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS567500345 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Congenital hypothyroidism
RS567501862 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS567504204 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS567511139 SOD1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS567511335 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS567519802 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS567530388 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS567530451 COL4A2 Health Risk Conflicting classifications of pathogenicity COL4A2-related disorder, COL4A2-related disorder
RS567556846 IRX4 Health Risk Pathogenic See cases, See cases
RS567558623 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS567558964 PDYN Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS567563179 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram-like syndrome, Wolfram syndrome 1
RS567564095 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS567565130 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Ovarian serous cystadenocarcinoma
RS567566682 SPINK5 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS567573386 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Inborn genetic diseases
RS567587933 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS567600444 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS567604039 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS567608851 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS567611268 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder
RS567617762 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS567620217 NME8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 6, Primary ciliary dyskinesia
RS567623265 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS567626735 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, Orofacial cleft 8
RS567629350 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS567635584 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS567638775 DYM Health Risk Pathogenic/Likely pathogenic Dyggve-Melchior-Clausen syndrome, DYM-related disorder
RS567641208 PCSK1 Health Risk Likely pathogenic PCSK1-related disorder, PCSK1-related disorder
RS567642788 SLC35C1 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency type II, SLC35C1-related disorder
RS567643693 GLI2 Health Risk Conflicting classifications of pathogenicity GLI2-related disorder, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS567650774 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS567650961 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Idiopathic Pulmonary Fibrosis
RS567656365 NCF4 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS567672087 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS567684136 PHIP Health Risk Conflicting classifications of pathogenicity PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related disorder
RS567686069 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS567687227 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS567692069 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS567703268 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS567703513 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS567706422 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS567711266 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS567711722 SETX Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Amyotrophic lateral sclerosis type 4
RS567713935 MIPEP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
RS56771886 LMNA Health Risk Pathogenic Dilated cardiomyopathy 1A, Emery-Dreifuss muscular dystrophy 2
RS567720234 PAX6 Health Risk Conflicting classifications of pathogenicity Foveal hypoplasia 1, carboxymethyl-dextran-A2-gadolinium-DOTA
RS567721919 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS567722846 THRB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS567723663 MYL3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS567733221 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS567739580 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Inborn genetic diseases
RS56774046 DMGDH Health Risk Conflicting classifications of pathogenicity Dimethylglycine dehydrogenase deficiency, Dimethylglycine dehydrogenase deficiency
RS567769257 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS567779457 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS567781604 TTN Health Risk Conflicting classifications of pathogenicity —
RS567782238 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS567785169 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS567790419 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS567795032 TMIE Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 6, TMIE-related disorder
RS567795279 FLG Health Risk Pathogenic/Likely pathogenic Dermatitis, atopic
RS567795716 IMPG2 Health Risk Conflicting classifications of pathogenicity Macular dystrophy, Macular dystrophy
RS567814417 PRICKLE2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5
RS567825537 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS567825753 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS567826472 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS567838745 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS567841514 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS567845896 CCDC8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS567857926 IFITM5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS567858165 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS567869370 ACTG1 Health Risk Conflicting classifications of pathogenicity —
RS567872241 JPH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS567877611 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS567879649 CHD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS567881943 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS567883079 TUBGCP6 Health Risk Conflicting classifications of pathogenicity —
RS567890014 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Leber congenital amaurosis
RS567890045 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS567894083 UROD Health Risk Pathogenic Thyroid cancer, nonmedullary
RS567894670 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS567895583 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
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