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
RS758836138 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS758838678 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS758838935 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS758839801 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS758840181 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS758841233 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS758841632 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS758842658 VPS13B Health Risk Pathogenic —
RS758843096 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS758843908 BSCL2 Health Risk Pathogenic Congenital generalized lipodystrophy type 2, Charcot-Marie-Tooth disease type 2
RS758844607 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS758845090 SRPX2 Health Risk Conflicting classifications of pathogenicity Rolandic epilepsy, intellectual disability
RS758845779 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS758846538 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS758847068 SKIC3 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS758847241 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS758847803 ANO5 Health Risk Likely pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS758848135 LMNA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Charcot-Marie-Tooth disease type 2
RS758848783 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS758848800 CNGB1 Health Risk Conflicting classifications of pathogenicity CNGB1-related retinopathy, CNGB1-related retinopathy
RS758849410 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS758851721 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS758852420 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS758853244 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS758855122 ERF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, See cases
RS758856471 FANCI Health Risk Pathogenic/Likely pathogenic —
RS758857025 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS758857773 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS758858303 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS75885959 COL4A1 Health Risk Conflicting classifications of pathogenicity COL4A1-related disorder, COL4A1-related disorder
RS758859772 PIDD1 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 75
RS758860164 COL4A4 Health Risk Conflicting classifications of pathogenicity COL4A4-related disorder, COL4A4-related disorder
RS758860363 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS758861786 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS758862765 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS758863136 KIF1C Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic ataxia 2
RS758863393 TRAPPC6B Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, epilepsy
RS758863985 NBAS Health Risk Pathogenic/Likely pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS758864728 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS758865880 KYNU Health Risk Pathogenic Vertebral, cardiac
RS758865966 NUP93 Health Risk Pathogenic Nephrotic syndrome, type 12
RS758866379 CNNM4 Health Risk Likely pathogenic CNNM4-related disorder, CNNM4-related disorder
RS758866426 VPS13C Health Risk Likely pathogenic Autosomal recessive early-onset Parkinson disease 23, Autosomal recessive early-onset Parkinson disease 23
RS758867047 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS758867131 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS758868622 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS758868843 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS758869410 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS758870080 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS758871406 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS758871506 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neuroblastoma
RS758871507 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Inborn genetic diseases
RS758872535 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS758872596 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Brugada syndrome 5
RS758872772 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS758872814 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia
RS758873284 VARS1 Health Risk Likely pathogenic —
RS758873844 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS758874054 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS758876038 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS758876727 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Deafness
RS758877211 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS758877243 NEU1 Health Risk Conflicting classifications of pathogenicity —
RS758877832 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS758877996 KCNV2 Health Risk Pathogenic —
RS758878983 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Senior-Loken syndrome 6
RS758879412 FAM161A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS758879647 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A1
RS758880377 FANCI;POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Fanconi anemia complementation group I
RS758881668 RB1 Health Risk Conflicting classifications of pathogenicity Malignant tumor of urinary bladder, Hereditary cancer-predisposing syndrome
RS758883150 ELP4 Health Risk Likely pathogenic Seizure, Cognitive impairment
RS758883183 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS758883184 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS758883383 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS758884639 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS758886187 CSF3R Health Risk Likely pathogenic —
RS758886532 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS758886547 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS758886651 DUOX2 Health Risk Pathogenic —
RS758887080 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS758887740 LMNA Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiomyopathy
RS758888137 RSPO2 Health Risk Pathogenic Humerofemoral hypoplasia with radiotibial ray deficiency, Humerofemoral hypoplasia with radiotibial ray deficiency
RS758888293 GLI1 Health Risk Likely pathogenic —
RS758888472 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS758888662 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS758888999 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS758889240 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Inborn genetic diseases
RS758889557 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS758891557 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS758891825 RSPH3 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS758892087 ACAN Health Risk Pathogenic —
RS758893131 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS758894409 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS758895348 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS758895400 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS758895722 VWF Health Risk Pathogenic von Willebrand disease type 1, von Willebrand disorder
RS758895760 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS758895846 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS758895857 EMILIN1 Health Risk Pathogenic Arterial tortuosity, Arterial tortuosity-bone fragility syndrome
RS758896141 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
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