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
RS765519281 EDAR Health Risk Likely pathogenic —
RS765520147 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, DNA ligase IV deficiency
RS765520187 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS765520656 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765522088 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS765522418 ABCG8 Health Risk Conflicting classifications of pathogenicity —
RS765523959 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765524239 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS765525417 TFR2 Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS765525964 TFR2 Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 3
RS765526 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS765527118 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS765527121 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS765527234 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS765527607 TAP1 Health Risk Conflicting classifications of pathogenicity MHC class I deficiency, MHC class I deficiency
RS765527687 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS765527736 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS765529429 MYH2 Health Risk Pathogenic/Likely pathogenic —
RS765529435 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS765529707 CHKA Health Risk Likely pathogenic Microcephaly, Severe intellectual disability
RS765530046 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS765530283 TTN Health Risk Conflicting classifications of pathogenicity —
RS765530357 ASPM Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS765531464 ABCA7 Health Risk Pathogenic ABCA7-related disorder, ABCA7-related disorder
RS765531556 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS765531651 CACNA1A Health Risk Pathogenic CACNA1A-related complex neurodevelopmental disorder, CACNA1A-related complex neurodevelopmental disorder
RS765532123 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS765533675 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1
RS765534006 NPHS1 Health Risk Likely pathogenic —
RS765535147 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS765535822 TUBGCP6 Health Risk Pathogenic —
RS765536137 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS765536334 TMEM67 Health Risk Likely pathogenic —
RS765536522 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, CSF3R-related disorder
RS765537459 EPRS1 Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS765539314 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS765540111 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS765541438 MAGI2 Health Risk Conflicting classifications of pathogenicity —
RS765542839 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, PHGDH deficiency
RS765542916 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS765543886 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS765544171 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS765544509 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS765544833 WWOX Health Risk Pathogenic Developmental and epileptic encephalopathy, 28
RS76554633 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS765547005 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS765547422 HSD3B2 Health Risk Pathogenic Congenital adrenal hyperplasia, Congenital adrenal hyperplasia
RS765548056 MCM3AP Health Risk Pathogenic —
RS765548101 CCM2 Health Risk Pathogenic Cavernous hemangioma, Cerebral cavernous malformation 2
RS765548407 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS765548847 MTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS765548922 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS765549411 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS765549490 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS765550303 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS765550592 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS765551089 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS765551290 LEPR Health Risk Pathogenic —
RS765551897 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS765552403 EMC10 Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and variable seizures, Inborn genetic diseases
RS765552494 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS765553310 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS765553799 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS765554006 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS765554137 ANKZF1 Health Risk Conflicting classifications of pathogenicity —
RS765555186 CLCN2 Health Risk Likely pathogenic —
RS765556063 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS765556214 GRIA4 Health Risk Pathogenic Neurodevelopmental disorder with or without seizures and gait abnormalities, Intellectual disability
RS765556647 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS765556817 ACAN Health Risk Pathogenic/Likely pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS765557053 TBL1XR1 Health Risk Conflicting classifications of pathogenicity Pierpont syndrome, Gastric cancer
RS765557765 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS765557914 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS765558281 ARHGAP24 Health Risk Conflicting classifications of pathogenicity —
RS765561257 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS765561672 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS765561928 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765561953 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765562062 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoimmune interstitial lung disease-arthritis syndrome
RS765563111 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS765563320 ABCA4 Health Risk Conflicting classifications of pathogenicity Isolated macular dystrophy, Isolated macular dystrophy
RS765563414 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765563471 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Inborn genetic diseases
RS765566169 DIDO1 Health Risk Conflicting classifications of pathogenicity —
RS765566328 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS765566930 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS765569628 TSHR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hyperthyroidism
RS765569689 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS765569983 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS765570396 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, ABCC2-related disorder
RS765570412 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS765570755 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS765571333 PKD1L1 Health Risk Pathogenic —
RS765571443 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765571574 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS1-related disorder
RS765572951 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS765574129 CNGB3 Health Risk Pathogenic Achromatopsia, Achromatopsia 3
RS765574676 ADGRV1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive sensorineural hearing loss, Hearing loss
RS765574993 HSD11B2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765575482 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
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