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
RS1432047332 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS143205296 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1432055610 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1432061016 DES Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome
RS143206293 LDHA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Inborn genetic diseases
RS143206380 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Zellweger spectrum disorders
RS1432063993 HOXD13 Health Risk Likely pathogenic —
RS1432065625 MYMK Health Risk Likely pathogenic Congenital nonprogressive myopathy with Moebius and Robin sequences, Congenital nonprogressive myopathy with Moebius and Robin sequences
RS143206604 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS143206624 COL11A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Fibrochondrogenesis 1
RS143207059 TRMT10A Health Risk Conflicting classifications of pathogenicity TRMT10A-related disorder, TRMT10A-related disorder
RS1432073374 POLE Health Risk Conflicting classifications of pathogenicity —
RS1432086775 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1432089303 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS143208937 EYA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 10, Dilated cardiomyopathy 1J
RS143208990 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, USH2A-related disorder
RS143209062 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS1432097143 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS143210369 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 10, Primary ciliary dyskinesia
RS143211526 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1432121366 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS143212851 NBAS Health Risk Conflicting classifications of pathogenicity Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS1432128768 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS143212958 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KAT6A-related disorder
RS1432130710 COL27A1 Health Risk Likely pathogenic —
RS143213152 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS143213478 TAB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS143214563 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS1432148373 CRYBB3 Health Risk Pathogenic Microphthalmia, Cataract
RS143215183 ODAD2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 23, Primary ciliary dyskinesia
RS143215830 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143215851 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS143216377 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS143216798 THPO Health Risk Conflicting classifications of pathogenicity Thrombocythemia 1, Inborn genetic diseases
RS1432170970 TRDN Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 5
RS143217620 MCM4 Health Risk Conflicting classifications of pathogenicity —
RS143217651 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1432181034 PIK3CA Health Risk Pathogenic PIK3CA related overgrowth syndrome, PIK3CA related overgrowth syndrome
RS143218168 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS1432183079 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS143218310 SLC35D1 Health Risk Conflicting classifications of pathogenicity Schneckenbecken dysplasia, Connective tissue disorder
RS1432186347 SLC26A3 Health Risk Likely pathogenic —
RS143218981 MGME1 Health Risk Conflicting classifications of pathogenicity —
RS1432190775 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1432193098 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS143219477 PLD1 Health Risk Conflicting classifications of pathogenicity Cardiac valvular defect, developmental
RS143219911 KIF23 Health Risk Conflicting classifications of pathogenicity —
RS143220447 PCK1 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS1432207212 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, ABCA4-related disorder
RS1432208282 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS143220941 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS143221196 FOXH1 Health Risk Conflicting classifications of pathogenicity Conotruncal defect, Conotruncal defect
RS143221297 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS1432218739 TP53RK Health Risk Pathogenic Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4
RS1432225013 PINK1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS143222885 TCHH Health Risk Conflicting classifications of pathogenicity —
RS143223388 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS143223962 B4GAT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
RS143224466 MITF Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A
RS143224806 NUP214 Health Risk Likely pathogenic NUP214-related disorder, NUP214-related disorder
RS143224896 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Benign neonatal seizures
RS143225442 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS143225778 PLCB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143226012 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS143226730 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS143227096 SKIC3 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS143227390 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS143227399 JAK2 Health Risk Conflicting classifications of pathogenicity —
RS1432291994 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS143229302 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS143229596 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS143229804 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS1432298976 SCN5A Health Risk Pathogenic —
RS143229915 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Cardiomyopathy
RS1432305934 CNGA3 Health Risk Pathogenic —
RS143231454 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS1432320770 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS143232208 FXN Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Friedreich ataxia 1
RS1432325198 FANCI Health Risk Pathogenic/Likely pathogenic Gastric cancer, Fanconi anemia complementation group I
RS143232629 TMPO Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Loeys-Dietz syndrome 2
RS143232848 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Microcephaly
RS143232961 CLRN1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3A, Retinal dystrophy
RS143233087 TCAP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS143233751 GFM2 Health Risk Conflicting classifications of pathogenicity —
RS143234424 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia
RS143235330 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS143235655 VSIG1 Health Risk Conflicting classifications of pathogenicity —
RS1432360280 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS143237092 CFH Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical
RS143237699 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS143238298 HIVEP1 Health Risk Conflicting classifications of pathogenicity —
RS1432383285 CPLANE1 Health Risk Pathogenic —
RS1432383727 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS1432384861 MAGED2 Health Risk Pathogenic Bartter disease type 5, Bartter disease type 5
RS143238782 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS143239201 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, IL17RA-related disorder
RS143239564 KDM4B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KDM4B-related disorder
RS1432396805 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS1432399232 FIG4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS143240067 CFHR5 Health Risk Conflicting classifications of pathogenicity —
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