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
RS760783642 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS760784102 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hypothermia, Malignant hyperthermia
RS760784181 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS760784874 DIAPH1 Health Risk Conflicting classifications of pathogenicity Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
RS760786665 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS760786694 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS760786924 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS760786950 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS760787108 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS760787571 PDE3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760787980 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS760788961 TTN Health Risk Conflicting classifications of pathogenicity —
RS760790290 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, INPP5E-related disorder
RS760790294 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS760790832 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS76079088 CTBP2 Health Risk Pathogenic Pulmonary artery atresia, Pulmonary artery atresia
RS760791287 ACADSB Health Risk Pathogenic/Likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS76079175 REEP6 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 77
RS760791871 DNMT3A Health Risk Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS760792371 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS760792501 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS760793648 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS760793958 SKIC3 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS760795047 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS760795257 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS760795319 VIPAS39 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction
RS760795817 COL4A4 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Hematuria
RS760797386 TGFBR2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS760797899 THPO Health Risk Pathogenic Inborn genetic diseases, Amegakaryocytic thrombocytopenia
RS760798049 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS760798318 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS760798455 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS760798467 VPS13A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Chorea-acanthocytosis
RS760800240 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS760801598 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS760801846 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS760802761 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MAGEL2-related disorder
RS760803010 COL4A4 Health Risk Pathogenic —
RS760803228 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS760803572 TUFM Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4
RS760803657 SPTB Health Risk Conflicting classifications of pathogenicity Elliptocytosis 3, Hereditary spherocytosis type 2
RS760803919 CIDEC Health Risk Conflicting classifications of pathogenicity —
RS760805307 DNAAF4 Health Risk Conflicting classifications of pathogenicity —
RS760806279 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS760806762 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS760807984 NBAS Health Risk Conflicting classifications of pathogenicity Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS760808366 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS760810819 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Inborn genetic diseases
RS760810832 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS760811074 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS760811504 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Isolated Nonsyndromic Congenital Heart Disease
RS760813493 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS760813820 RDH12 Health Risk Pathogenic Retinal dystrophy, Leber congenital amaurosis 13
RS760814014 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS760814763 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS760814870 ARR3 Health Risk Conflicting classifications of pathogenicity Myopia 26, X-linked
RS760814922 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS760815043 COL4A2 Health Risk Pathogenic —
RS760815168 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS760815388 DIAPH3 Health Risk Conflicting classifications of pathogenicity —
RS760815481 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS760815829 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS760816239 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS760816246 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS760816389 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency, Combined immunodeficiency with skin granulomas
RS760816505 BEST1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant vitreoretinochoroidopathy, Retinitis pigmentosa
RS760816769 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS760816963 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS760817242 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS760818476 F13A1 Health Risk Pathogenic Factor XIII, A subunit
RS760818649 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS760819349 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS760820148 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, TRIM32-related disorder
RS760820378 ERCC2 Health Risk Conflicting classifications of pathogenicity Trichothiodystrophy 1, photosensitive
RS760822872 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS760824351 SCLT1 Health Risk Conflicting classifications of pathogenicity SCLT1-related disorder, Esophageal atresia/tracheoesophageal fistula
RS760824486 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS760824971 PPA2 Health Risk Conflicting classifications of pathogenicity Sudden cardiac failure, alcohol-induced
RS760824995 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases
RS760826883 ATAD3A Health Risk Pathogenic Pontocerebellar hypoplasia, hypotonia
RS760827935 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760829254 TULP1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS760830696 TCTN2 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 8
RS760830761 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS760830864 GALNT3 Health Risk Pathogenic Tumoral calcinosis, hyperphosphatemic
RS760831364 RARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760831749 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS760831781 NPHP3 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis 3
RS760832715 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS760832986 IRS4 Health Risk Likely pathogenic Hypothyroidism, congenital
RS760832994 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS760834687 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Familial cancer of breast
RS760836130 CDK5RAP2 Health Risk Likely pathogenic Microcephaly 3, primary
RS760836450 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS760836671 GLYCTK Health Risk Likely pathogenic —
RS760838030 TREX1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS760839591 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS760840557 SMAD4 Health Risk Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli, Hereditary cancer-predisposing syndrome
RS760841840 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS760842136 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
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