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
RS200110068 SLC12A6 Health Risk Conflicting classifications of pathogenicity —
RS200110351 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS200110633 TNNI2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200110733 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS200110820 GUCA1A;GUCA1ANB-GUCA1A Health Risk Conflicting classifications of pathogenicity Cone dystrophy 3, Cone dystrophy 3
RS200110847 CNNM4 Health Risk Conflicting classifications of pathogenicity Jalili syndrome, CNNM4-related disorder
RS200110903 EEF2 Health Risk Conflicting classifications of pathogenicity —
RS200111039 CYP19A1 Health Risk Conflicting classifications of pathogenicity Aromatase deficiency, CYP19A1-related disorder
RS200111122 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200111154 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS200111236 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS200111289 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS200111411 IRX5 Health Risk Conflicting classifications of pathogenicity Craniofacial dysplasia - osteopenia syndrome, Craniofacial dysplasia - osteopenia syndrome
RS200111443 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS200111638 ARHGAP5 Health Risk Pathogenic Pulmonary artery atresia, Pulmonary artery atresia
RS200111698 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS200111933 MYBPC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200112094 LAMA4 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1JJ
RS200112691 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS200112795 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS200113281 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS200113398 ITGA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200113428 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS200113494 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Cholangiocarcinoma
RS200113704 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS200113889 TTC8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Retinitis pigmentosa
RS200114024 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS200114054 AIFM1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS200114659 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS200114980 SLC27A5 Health Risk Conflicting classifications of pathogenicity SLC27A5-related disorder, SLC27A5-related disorder
RS200115167 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Usher syndrome type 2
RS200115195 IL12RB2 Health Risk Conflicting classifications of pathogenicity —
RS200115233 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS200115353 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS200115379 DNAH8 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200115455 ANKLE2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200115495 FOXH1 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly sequence, Inborn genetic diseases
RS200115665 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS200115914 POLR1C Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 3, Inborn genetic diseases
RS200116037 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS200116252 EFHC1 Health Risk Conflicting classifications of pathogenicity Absence seizure, Juvenile myoclonic epilepsy
RS200116438 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS200116475 SPATA31A1 Health Risk Conflicting classifications of pathogenicity —
RS200116631 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Inborn genetic diseases
RS200116664 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200117092 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS200117191 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS200117223 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS200117742 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS200118247 DLC1 Health Risk Conflicting classifications of pathogenicity —
RS200118378 POLG2 Health Risk Conflicting classifications of pathogenicity —
RS200118387 NPHP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis, Joubert syndrome with renal defect
RS200118565 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia
RS200118743 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200118797 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS200118981 MRE11 Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia-like disorder, Ataxia-telangiectasia-like disorder 1
RS200119454 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS200119939 PPFIBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with seizures
RS200120672 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200121105 NBEAL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200121200 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 10, Primary ciliary dyskinesia
RS200121260 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200121281 RYR2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiomyopathy
RS200121444 CLCN7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200121671 MRPL44 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200121902 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200122209 CACNA1B Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
RS200122580 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS200122644 SLC45A2 Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
RS200122872 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS200122889 GSTZ1 Health Risk Pathogenic Maleylacetoacetate isomerase deficiency, Maleylacetoacetate isomerase deficiency
RS200123047 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200123250 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS200123352 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS200123398 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS200123403 HNRNPDL Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
RS200124278 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS200124646 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS200124755 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Self-limited epilepsy with centrotemporal spikes
RS200124759 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, Lung cancer
RS200124802 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS200124857 TTBK2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 11, Inborn genetic diseases
RS200124902 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS200125037 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS200125060 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200125117 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis
RS200125217 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS200125366 TTBK2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 11, Spastic ataxia
RS200125400 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Inborn genetic diseases
RS200125747 HR Health Risk Conflicting classifications of pathogenicity Atrichia with papular lesions, Alopecia universalis congenita
RS200125890 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Hematuria
RS200125936 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS200126026 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Cardiovascular phenotype
RS200126117 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS200126170 ZAP70 Health Risk Likely pathogenic —
RS200126485 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS200126714 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS200126728 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS200126737 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS200126749 OSGEP Health Risk Conflicting classifications of pathogenicity Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3
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