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
RS1463816273 DEAF1 Health Risk Conflicting classifications of pathogenicity —
RS146381949 FAT2 Health Risk Conflicting classifications of pathogenicity Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS1463828394 DSG1 Health Risk Pathogenic/Likely pathogenic Severe dermatitis-multiple allergies-metabolic wasting syndrome, Severe dermatitis-multiple allergies-metabolic wasting syndrome
RS146382972 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS146383325 JAM3 Health Risk Conflicting classifications of pathogenicity JAM3-related disorder, Porencephaly-microcephaly-bilateral congenital cataract syndrome
RS146383819 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS146384458 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1463849219 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS146385147 PLIN1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Monogenic diabetes
RS1463859150 SH3TC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS146386375 CDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146386562 STAT4 Health Risk Conflicting classifications of pathogenicity —
RS146387060 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS1463871450 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS146387238 FGA Health Risk Pathogenic Congenital afibrinogenemia, Familial hypodysfibrinogenemia
RS146388001 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS146388120 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS1463883512 TTN Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1463885690 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Vascular malformation
RS146390067 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1463906422 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1463907198 XDH Health Risk Pathogenic/Likely pathogenic Xanthinuria type II, Hereditary xanthinuria type 1
RS146391318 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS146391497 TAC3 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
RS146392250 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS146392305 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS1463923467 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS146392372 SPR Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS1463925107 RDX Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24
RS1463928941 ANKRD31 Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS146393022 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases
RS146393315 CD3G Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to CD3gamma deficiency, CD3G-related disorder
RS1463935039 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS146395198 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS146395561 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS146395646 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis
RS146395801 GCM2 Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism, familial isolated
RS146396414 PKD2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Polycystic kidney disease 2
RS146396982 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1463970507 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1463986810 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS146398746 SPART Health Risk Conflicting classifications of pathogenicity Troyer syndrome, Hereditary spastic paraplegia
RS1463997351 IFT81 Health Risk Pathogenic —
RS146399987 GSDME Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146400205 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS146400394 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS146400809 TTN-AS1;TTN Health Risk Conflicting classifications of pathogenicity Abnormality of neuronal migration, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS146401446 HMCN1 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, Thyroid cancer
RS1464015799 ITGB2 Health Risk Pathogenic/Likely pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS1464015871 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1464020122 MECR Health Risk Likely pathogenic —
RS146402368 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS1464028021 GDF5 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS146402942 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Inborn genetic diseases
RS146403088 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1464032361 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS146403258 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS146403390 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1464038626 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS146404747 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS146405172 ABCC2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, ABCC2-related disorder
RS1464053660 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS146405751 TCOF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Treacher Collins syndrome 1
RS1464059546 TRMU Health Risk Pathogenic/Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS146406037 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, Inborn genetic diseases
RS1464062644 TYR Health Risk Pathogenic —
RS146406848 UVSSA Health Risk Conflicting classifications of pathogenicity —
RS146407179 RYR1 Health Risk Conflicting classifications of pathogenicity Multiminicore myopathy, Centronuclear myopathy
RS146407496 LRP6 Health Risk Conflicting classifications of pathogenicity LRP6-related disorder, Inborn genetic diseases
RS146407633 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS146407656 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Chondrosarcoma
RS1464076815 PADI6 Health Risk Likely pathogenic Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
RS146407699 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS146408017 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D2HGDH-related disorder
RS146408488 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS146408926 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS146412095 DRC1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 21
RS1464127693 BMP2 Health Risk Pathogenic —
RS146413034 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Holoprosencephaly 11
RS146413363 SCNN1G Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS1464136979 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS1464137864 BCORL1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS146413988 BRWD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146414576 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS146415546 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS146415600 SLC27A5 Health Risk Conflicting classifications of pathogenicity SLC27A5-related disorder, SLC27A5-related disorder
RS1464157509 MITF Health Risk Pathogenic Waardenburg syndrome type 2A, Nonsyndromic genetic hearing loss
RS146416320 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Inborn genetic diseases
RS146416679 PEX6 Health Risk Conflicting classifications of pathogenicity Heimler syndrome 2, Peroxisome biogenesis disorder
RS1464167194 CNGA3 Health Risk Pathogenic Cone-rod dystrophy, Achromatopsia
RS146416859 ANK1 Health Risk Conflicting classifications of pathogenicity Spherocytosis, Hereditary spherocytosis type 1
RS146417316 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS146417527 CRX Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS146418094 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Wolfram-like syndrome
RS1464183714 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS146419641 MYO6 Health Risk Conflicting classifications of pathogenicity —
RS1464198654 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS146420268 RD3 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 12, Leber congenital amaurosis 12
RS146420583 IFNGR1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 27A, Disseminated atypical mycobacterial infection
RS146420786 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
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