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
RS771823596 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS771824413 UROD Health Risk Pathogenic/Likely pathogenic Familial porphyria cutanea tarda, UROD-related disorder
RS771824813 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, Xeroderma pigmentosum
RS771825187 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS771825279 KIF26A Health Risk Pathogenic Cortical dysplasia, complex
RS771825373 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS771825770 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS771826064 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS771827120 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Autism
RS771827859 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS771829423 PHF20 Health Risk Likely pathogenic Short stature, Short stature
RS771829991 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS771831816 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS771831848 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS771833309 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS771833874 CNGB1 Health Risk Likely pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 45
RS771834072 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS771834192 TSHB Health Risk Pathogenic/Likely pathogenic Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency
RS771834548 TRPS1 Health Risk Likely pathogenic —
RS771835288 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS771837028 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS771837383 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS771839087 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS771839491 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS771839581 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS771840678 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases
RS771841841 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS771842369 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS771843783 COMP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771843862 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771844125 CACNA2D2 Health Risk Conflicting classifications of pathogenicity Cerebellar atrophy with seizures and variable developmental delay, CACNA2D2-related disorder
RS771844359 GRXCR1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 25, Autosomal recessive nonsyndromic hearing loss 25
RS771844518 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS771844889 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS771845478 KCNQ2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 7
RS771845588 SKI Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
RS771845744 RRM2B Health Risk Conflicting classifications of pathogenicity RRM2B-related disorder, RRM2B-related disorder
RS771846177 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS771846178 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS771846754 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS771847002 ASAH1 Health Risk Pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
RS771847652 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS771847879 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS771849296 SRPX2 Health Risk Pathogenic Rolandic epilepsy, intellectual disability
RS771851532 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS771852699 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS771853346 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS771853367 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS771855778 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS771857618 SYNE1 Health Risk Likely pathogenic —
RS771858477 COL3A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection
RS771860071 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS771861177 GMPPB Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS771861205 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS771862017 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS771862077 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS771863504 RAB3GAP2 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS771864122 DEGS1 Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS771864158 CEP290 Health Risk Pathogenic/Likely pathogenic CEP290-related disorder, Joubert syndrome
RS771864692 OSMR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771864984 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS771865391 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS771865668 MANBA Health Risk Pathogenic/Likely pathogenic Beta-D-mannosidosis, MANBA-related disorder
RS771865940 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS771866012 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS771866083 INPP5E Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS771866500 INPP5E Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome and related disorders
RS771866622 SLC2A9 Health Risk Conflicting classifications of pathogenicity Hypouricemia, renal
RS771866680 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS771866731 PITRM1 Health Risk Conflicting classifications of pathogenicity —
RS771867435 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771869140 SEC23B Health Risk Pathogenic/Likely pathogenic Congenital dyserythropoietic anemia, type II
RS771869385 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS771869476 SPOUT1 Health Risk Likely pathogenic Neurodevelopmental disorder, Undetermined early-onset epileptic encephalopathy
RS771871664 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS771874163 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS771875570 DLL3 Health Risk Pathogenic/Likely pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS771877780 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS771878314 CTSA Health Risk Pathogenic/Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS771878661 KCND3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS771879602 COLQ Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS771880080 PIK3C2A Health Risk Pathogenic —
RS771880802 GALK1 Health Risk Conflicting classifications of pathogenicity Deficiency of galactokinase, Deficiency of galactokinase
RS771882254 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS771882746 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS771882905 KAT14 Health Risk Likely pathogenic Global developmental delay, Seizure
RS771883563 KATNIP Health Risk Pathogenic —
RS771883699 IARS1 Health Risk Pathogenic —
RS77188391 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS771884588 MORC2 Health Risk Conflicting classifications of pathogenicity Developmental delay, impaired growth
RS771885420 LZTR1 Health Risk Likely pathogenic —
RS771885443 MLYCD Health Risk Conflicting classifications of pathogenicity Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS771886065 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS771886198 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS771886999 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS771887195 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS771888480 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS771888635 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS771890863 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS771890880 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
« Prev 1 ... 3550 3551 3552 3553 3554 3555 3556 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →