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
RS763403897 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS763404256 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS763404712 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS763405163 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS763406021 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS763407068 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS763407931 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS763407938 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS763408652 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Macular degeneration
RS763408801 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS763408993 G6PC3 Health Risk Likely pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS763409550 COL1A1 Health Risk Conflicting classifications of pathogenicity Infantile cortical hyperostosis, Osteogenesis imperfecta
RS763409574 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS763409720 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS763410987 CAD Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 50
RS763411017 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS763411938 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS763413441 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS763413580 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS763413730 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS763414376 ANKRD11 Health Risk Likely pathogenic ANKRD11-related disorder, ANKRD11-related disorder
RS763416852 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS763416913 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS763418390 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS763418954 POLG Health Risk Pathogenic —
RS763422682 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS763422772 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS763423294 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS763425007 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS763426415 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS763426689 ZNF687 Health Risk Conflicting classifications of pathogenicity —
RS763427538 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Inborn genetic diseases
RS763428520 STX1B Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 9
RS763428801 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, Inborn genetic diseases
RS763429317 TPM2 Health Risk Conflicting classifications of pathogenicity Congenital myopathy 23, Arthrogryposis
RS763432574 RAD50 Health Risk Likely pathogenic Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder
RS763433145 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS763433647 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS76343591 DUOX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital hypothyroidism
RS763436882 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS763437121 CYP27B1 Health Risk Pathogenic Vitamin D-dependent rickets, type 1A
RS763437650 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS763438353 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS763438739 KMT2C Health Risk Pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS763439987 FN1 Health Risk Conflicting classifications of pathogenicity —
RS763440221 ALS2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 2, juvenile
RS763440781 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS763440821 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS763440838 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS763441352 PCARE Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS763443113 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS763443331 QRSL1 Health Risk Pathogenic Cardiomyopathy, mitochondrial
RS763443434 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS763444110 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS763444295 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS763445509 ELP1 Health Risk Pathogenic Familial dysautonomia, Familial dysautonomia
RS763446963 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Benign neonatal seizures
RS763447325 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS763447736 TG Health Risk Pathogenic —
RS763448297 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS76344857 PRKAR1B Health Risk Conflicting classifications of pathogenicity Marbach-Schaaf neurodevelopmental syndrome, Marbach-Schaaf neurodevelopmental syndrome
RS763448911 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, HOXB13-related disorder
RS763449097 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS763449629 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome
RS763449646 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS763449647 MICU1 Health Risk Pathogenic —
RS763450239 CSTB Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS763451208 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS763451792 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS763452347 TMEM237 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 14, Joubert syndrome 14
RS763452490 TUBGCP2 Health Risk Conflicting classifications of pathogenicity Pachygyria, microcephaly
RS763453097 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS763455650 FBRSL1 Health Risk Conflicting classifications of pathogenicity —
RS763455928 ALS2 Health Risk Likely pathogenic Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2
RS763456705 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS763456750 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS763456921 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS763457015 EXOSC9 Health Risk Pathogenic —
RS763457172 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS763457176 ENPP1 Health Risk Conflicting classifications of pathogenicity ENPP1-related disorder, ENPP1-related disorder
RS763457259 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS763458490 F7 Health Risk Conflicting classifications of pathogenicity Congenital factor VII deficiency, Myocardial infarction
RS763458922 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS763459034 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS763459576 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS763459814 APC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763459820 TPO Health Risk Pathogenic —
RS763461489 ATXN3 Health Risk Conflicting classifications of pathogenicity ATXN3-related disorder, Azorean disease
RS763462242 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS763462603 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome 1, Cardiovascular phenotype
RS763462686 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS763462869 NFS1 Health Risk Conflicting classifications of pathogenicity NFS1-related disorder, NFS1-related disorder
RS763463859 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS763465373 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS763468558 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Lamellar ichthyosis
RS763468767 GSDME Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
RS763469132 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS763469367 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 5, Catecholaminergic polymorphic ventricular tachycardia 1
RS763469464 GRIN2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS763470078 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
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