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
RS200042995 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS200043223 TBX19 Health Risk Conflicting classifications of pathogenicity Congenital isolated adrenocorticotropic hormone deficiency, TBX19-related disorder
RS200043736 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS200044033 FCSK Health Risk Conflicting classifications of pathogenicity FCSK-related disorder, FCSK-related disorder
RS200044412 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS200044623 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS200044782 ADCY10 Health Risk Likely pathogenic —
RS200044988 COL4A3 Health Risk Conflicting classifications of pathogenicity —
RS200045032 TRIOBP Health Risk Conflicting classifications of pathogenicity Hearing impairment, Autosomal recessive nonsyndromic hearing loss 28
RS200045097 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS200045926 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS200045967 TTI2 Health Risk Pathogenic/Likely pathogenic Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
RS200046052 MST1R Health Risk risk factor Nasopharyngeal carcinoma, susceptibility to
RS200046866 KICS2 Health Risk Conflicting classifications of pathogenicity —
RS200047769 TLL1 Health Risk Conflicting classifications of pathogenicity —
RS200047855 SLC24A1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS200048037 IKBKB Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to IKK2 deficiency, Inborn genetic diseases
RS200048290 APOB Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS200048536 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS200048692 FLNA Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Heterotopia
RS200048921 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS200049385 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS200049869 MECOM Health Risk Conflicting classifications of pathogenicity Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
RS200049922 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
RS200050310 SLC22A12 Health Risk Conflicting classifications of pathogenicity Dalmatian hypouricemia, Dalmatian hypouricemia
RS200050465 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS200050729 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS200050883 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS200050988 OTOGL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, OTOGL-related disorder
RS200051107 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200052001 PDE3A Health Risk Conflicting classifications of pathogenicity VATER association, VATER association
RS200052077 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS200052398 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200053059 KCNQ4 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Inborn genetic diseases
RS200053119 SCARB2 Health Risk Pathogenic/Likely pathogenic Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy
RS200053398 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia
RS200053580 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome 1, Li-Fraumeni syndrome
RS200053635 FLNA Health Risk Conflicting classifications of pathogenicity FLNA-related disorder, Connective tissue disorder
RS200053639 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS200053955 TFR2 Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 3
RS200054604 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Monogenic diabetes
RS200055020 GJB3 Health Risk Conflicting classifications of pathogenicity Erythrokeratodermia variabilis et progressiva 1, GJB3-related disorder
RS200055232 KRT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200055428 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS200055660 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS200055760 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS200056157 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200056162 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS200056509 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS200056620 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS200056840 TRNT1 Health Risk Conflicting classifications of pathogenicity Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Inborn genetic diseases
RS200057343 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Neuronopathy
RS200057913 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200058166 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Wolfram-like syndrome
RS200058427 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS200058475 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS200058688 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS200058817 TNRC18 Health Risk Conflicting classifications of pathogenicity —
RS200058876 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS200059077 WDR35 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS200059134 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, MYH9-related disorder
RS200059198 UGDH Health Risk Pathogenic Developmental and epileptic encephalopathy, 84
RS200059777 KRT3 Health Risk Conflicting classifications of pathogenicity —
RS200059956 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS200060005 FBN2 Health Risk Conflicting classifications of pathogenicity Macular degeneration, early-onset
RS200060245 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS200060292 TBX22 Health Risk Conflicting classifications of pathogenicity Abruzzo-Erickson syndrome, Cleft palate with or without ankyloglossia
RS200060542 RECQL Health Risk Conflicting classifications of pathogenicity —
RS200060757 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS200060827 SARS2 Health Risk Likely pathogenic —
RS200061143 LRPPRC Health Risk Conflicting classifications of pathogenicity —
RS200061440 UHRF1 Health Risk Conflicting classifications of pathogenicity —
RS200061712 COQ8B Health Risk Conflicting classifications of pathogenicity COQ8B-related disorder, Cervical cancer
RS200061825 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS200061856 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS200061970 DYNC2I1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 8 with or without polydactyly, DYNC2I1-related disorder
RS200061977 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200062099 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS200062157 PTH1R Health Risk Conflicting classifications of pathogenicity —
RS200062390 ARSL Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Chondrodysplasia punctata
RS200062782 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS200062851 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS200063017 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 5, Bardet-Biedl syndrome 14
RS200063300 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS200063331 TMEM231 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 20, Meckel syndrome
RS200064920 TBC1D8B Health Risk Conflicting classifications of pathogenicity TBC1D8B-related disorder, TBC1D8B-related disorder
RS200065104 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200065187 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200065382 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder 5A (Zellweger)
RS200065515 PUS1 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS200065806 TGFBI Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS200065889 COX20 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 11
RS200065908 RETREG1 Health Risk Pathogenic —
RS200066146 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS200066725 TTN Health Risk Conflicting classifications of pathogenicity —
RS200066766 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS200066836 MYO1E Health Risk Conflicting classifications of pathogenicity MYO1E-related disorder, Focal segmental glomerulosclerosis 6
RS200066956 SPEG Health Risk Conflicting classifications of pathogenicity —
RS200067322 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, CD36-related disorder
RS200067423 SKIC3 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
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