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
RS763711252 DYNC1H1 Health Risk Likely pathogenic —
RS763711863 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS763712423 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS763712887 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS763712971 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS763713221 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS763713707 SLC38A8 Health Risk Pathogenic —
RS763715229 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Generalized epilepsy with febrile seizures plus
RS763715733 CPAP Health Risk Likely pathogenic Microcephaly 6, primary
RS763715899 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS763715993 FGA Health Risk Pathogenic Familial dysfibrinogenemia, Congenital afibrinogenemia
RS763716590 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS763716638 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS763716866 DNMT3A Health Risk Likely pathogenic —
RS763717355 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS763717800 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS763718380 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS763718499 EXPH5 Health Risk Pathogenic —
RS763718617 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS763718818 EXT2 Health Risk Pathogenic Exostoses, multiple
RS763719276 EPM2A Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
RS763719290 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Inborn genetic diseases
RS763719304 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS763719430 LMF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS763719688 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS763721044 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Hearing loss
RS763721360 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS763721411 ABCA3 Health Risk Pathogenic —
RS763721668 USP7 Health Risk Likely pathogenic USP7-related disorder, USP7-related disorder
RS763722868 TTN Health Risk Conflicting classifications of pathogenicity —
RS763722972 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS763724025 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS763724281 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763727038 ALG3 Health Risk Conflicting classifications of pathogenicity ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS763729258 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS763729448 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS763729848 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS763729954 RELA Health Risk Conflicting classifications of pathogenicity Mucocutaneous ulceration, chronic
RS763730249 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS763730264 AP4B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 47
RS763733110 ADGRV1 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS763733217 CANT1 Health Risk Pathogenic/Likely pathogenic Epiphyseal dysplasia, multiple
RS763733251 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS763733996 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS763734157 F5 Health Risk Conflicting classifications of pathogenicity Congenital factor V deficiency, Inborn genetic diseases
RS763734477 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS763735590 CC2D2A Health Risk Pathogenic Joubert syndrome 9, Meckel-Gruber syndrome
RS763737123 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS763737197 THBD Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder
RS763737257 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS763737398 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS763737752 AFG2A Health Risk Pathogenic/Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS763737931 EPRS1 Health Risk Pathogenic Leukodystrophy, hypomyelinating
RS763738559 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS763738657 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS763739193 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS763740152 CDHR1 Health Risk Likely pathogenic —
RS763740623 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS763742755 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS763742779 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS763743788 DNHD1 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS763743962 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS763744498 ABCA1 Health Risk Conflicting classifications of pathogenicity —
RS763745734 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS763745871 GPX4 Health Risk Likely pathogenic Spondylometaphyseal dysplasia, Sedaghatian type
RS763745936 PTPN23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763746485 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS763746566 PCNT Health Risk Pathogenic —
RS763747258 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS763749576 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS763749755 PCARE Health Risk Pathogenic —
RS763750448 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Intellectual disability
RS763751899 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS763752752 KIAA0753 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763752868 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS763754846 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS763755514 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS763755540 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS763757845 FAM222A Health Risk Likely pathogenic Abnormal brain morphology, Abnormal brain morphology
RS763758904 NTRK1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Hereditary insensitivity to pain with anhidrosis
RS763759308 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS763759470 RP1L1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS763759889 STAT1 Health Risk Pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS763760515 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS763761196 UBQLN2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
RS763761460 TMPRSS15 Health Risk Pathogenic —
RS763762899 CEP290 Health Risk Pathogenic/Likely pathogenic Micrognathia, Hypotonia
RS763764130 NR2E3 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS763764330 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS763764765 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS763765410 CTCF Health Risk Pathogenic —
RS763765573 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS763765943 SLC6A19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neutral 1 amino acid transport defect
RS763766162 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS763766268 COL11A2 Health Risk Pathogenic —
RS763767150 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS763767937 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)
RS763768429 ABCB6 Health Risk Conflicting classifications of pathogenicity Dyschromatosis universalis hereditaria 3, Familial pseudohyperkalemia
RS763770085 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763770414 NARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
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