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
RS116058119 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS116058338 TRIM32 Health Risk Conflicting classifications of pathogenicity Sarcotubular myopathy, Bardet-Biedl syndrome 11
RS1160610120 LTBP2 Health Risk Pathogenic —
RS116061107 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, Inborn genetic diseases
RS1160619189 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS116062097 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, TG-related disorder
RS1160623744 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS116062572 GUF1 Health Risk Conflicting classifications of pathogenicity GUF1-related disorder, GUF1-related disorder
RS1160639880 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS1160640803 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS116065504 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1160660090 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Primary familial dilated cardiomyopathy
RS116066149 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1160665082 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1160669103 EXOSC3 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS1160669210 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Retinitis pigmentosa
RS1160670882 ALG8 Health Risk Likely pathogenic —
RS1160682080 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1160688414 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS1160693970 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS116069486 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS116071049 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS1160720188 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1160753200 KIF7 Health Risk Likely pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS1160758215 NCF4 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS116076204 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Inborn genetic diseases
RS116077141 ALPK3 Health Risk Conflicting classifications of pathogenicity —
RS1160773007 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS116079740 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1160828151 RPS6KA3 Health Risk Likely pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS1160846305 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1160856608 JAK3 Health Risk Pathogenic/Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1160862100 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS1160869968 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1160887570 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1160897474 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS116092750 TMPRSS6 Health Risk Conflicting classifications of pathogenicity Iron-refractory iron deficiency anemia, TMPRSS6-related disorder
RS116093741 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1160946320 ABCC8 Health Risk Likely pathogenic Diabetes mellitus, transient neonatal
RS1160950245 COL18A1 Health Risk Pathogenic —
RS1160960250 TERT Health Risk Likely pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1160961207 EIF2B2 Health Risk Pathogenic —
RS1160973224 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1160978570 IGHMBP2 Health Risk Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Autosomal recessive distal spinal muscular atrophy 1
RS1160986735 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS116099040 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SPTBN2-related disorder
RS116100695 PKLR Health Risk Pathogenic/Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase hyperactivity
RS1161012209 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS116103106 PSAT1 Health Risk Conflicting classifications of pathogenicity PSAT deficiency, Neu-Laxova syndrome 2
RS1161032867 FUS Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1161055704 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS1161061134 ATP2B1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Intellectual developmental disorder
RS1161063400 CLCN7 Health Risk Pathogenic —
RS1161074446 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS116107812 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1161092674 TPRN Health Risk Likely pathogenic —
RS1161096932 CPLANE1 Health Risk Pathogenic —
RS1161101663 ZMYND10 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1161105539 HPS5 Health Risk Pathogenic —
RS1161109360 FBN1 Health Risk Conflicting classifications of pathogenicity Isolated thoracic aortic aneurysm, Marfan syndrome
RS1161119501 ABCA4 Health Risk Conflicting classifications of pathogenicity maculopathy, Retinal dystrophy
RS1161132652 ATP9A Health Risk Pathogenic Neurodevelopmental disorder with poor growth and behavioral abnormalities, Neurodevelopmental disorder with poor growth and behavioral abnormalities
RS116118397 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS116118817 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS116118827 COX6B1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS1161194345 FOXN1 Health Risk Likely pathogenic T-cell immunodeficiency, congenital alopecia
RS116119508 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1161199196 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1161207534 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS1161210869 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1161219308 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic adenocarcinoma, Pancreatic adenocarcinoma
RS116122164 SLC20A2 Health Risk Conflicting classifications of pathogenicity Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS1161226532 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1161235543 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS116124880 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS1161257134 CTCF Health Risk Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS1161258635 KMT2B Health Risk Pathogenic —
RS1161262954 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS1161281976 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS116128702 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1161291343 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1161303371 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS116131367 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, OBSL1-related disorder
RS116132921 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1161335800 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, Lymphatic malformation 6
RS1161340148 RAD21L1 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS116134953 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Inborn genetic diseases
RS116135678 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1161370391 DOCK7 Health Risk Likely pathogenic —
RS1161373315 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS116137442 NDUFS1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS116137861 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS1161389116 PDE6A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS116139153 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1161400848 CUBN Health Risk Pathogenic Proteinuria, chronic benign
RS1161413517 TBCD Health Risk Pathogenic/Likely pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS1161418050 GAD1 Health Risk Pathogenic Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89
RS116141807 MSH4 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS116142642 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS116142791 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
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