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
RS144957412 SCN3A Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS144957920 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1449580462 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS144958262 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1449589636 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS144959805 ACP6 Health Risk Likely pathogenic Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability
RS1449610384 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS144961059 CYP4F22 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS144961504 ALX4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1449622779 CACNA1S Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS144962740 ATXN1 Health Risk Conflicting classifications of pathogenicity Tip-toe gait, Spinocerebellar ataxia type 1
RS1449629687 DSP Health Risk Pathogenic —
RS1449634173 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS144963490 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1449637193 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS144963732 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS144963736 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Primary dilated cardiomyopathy
RS144963785 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS144964568 GJB3 Health Risk Conflicting classifications of pathogenicity Nonsyndromic Deafness, Nonsyndromic Deafness
RS144966097 HECW2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144966407 COL11A1 Health Risk Conflicting classifications of pathogenicity COL11A1-related disorder, COL11A1-related disorder
RS144967259 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS144968313 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS1449686846 DNAH9 Health Risk Likely pathogenic DNAH9-related disorder, DNAH9-related disorder
RS1449687529 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS1449688220 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1449689929 NPTN Health Risk Conflicting classifications of pathogenicity Developmental disorder, NPTN-related neurodevelopmental disorder
RS144969057 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS144969169 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Inborn genetic diseases
RS144969324 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS144969600 UNC45B Health Risk Conflicting classifications of pathogenicity UNC45B-related disorder, Inborn genetic diseases
RS1449696743 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1449708494 MYH3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1449715458 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS144971707 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS144972103 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS144972211 OTOG Health Risk Conflicting classifications of pathogenicity OTOG-related disorder, OTOG-related disorder
RS144972292 MSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1449722966 PCNT Health Risk Pathogenic —
RS1449723475 RP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1449724176 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS1449727037 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS144972972 RMND1 Health Risk Pathogenic Mitochondrial disease, Combined oxidative phosphorylation defect type 11
RS1449730265 APRT Health Risk Pathogenic/Likely pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS144973225 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS144973796 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Sitosterolemia
RS144974139 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS1449749900 ANOS1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS144975214 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS1449758112 TIMM50 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 9, Inborn genetic diseases
RS1449758984 LPIN2 Health Risk Likely pathogenic Majeed syndrome, Majeed syndrome
RS144976132 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1449762196 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1449765833 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS144976646 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS1449768284 NBAS Health Risk Pathogenic —
RS1449772752 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1449774485 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS1449774712 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1449776440 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS144978163 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1449781976 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS144978857 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS144979314 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Congenital factor V deficiency
RS1449793938 LZTR1 Health Risk Pathogenic —
RS144979397 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS144979965 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS144981275 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1449813941 GABBR2 Health Risk Likely pathogenic Neurodevelopmental disorder with poor language and loss of hand skills, Neurodevelopmental disorder with poor language and loss of hand skills
RS1449821288 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Isolated focal cortical dysplasia type II
RS144982168 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS144982348 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS144983062 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder
RS144983823 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS144983881 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS144985214 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS144985667 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS1449861708 RIMS2 Health Risk Pathogenic Cone-rod synaptic disorder syndrome, congenital nonprogressive
RS144986636 FLAD1 Health Risk Conflicting classifications of pathogenicity Myopathy with abnormal lipid metabolism, Myopathy with abnormal lipid metabolism
RS144987429 BCHE Health Risk Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS144988077 CTLA4 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS1449883752 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS144989341 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS144989465 DDB2 Health Risk Pathogenic —
RS144990451 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS1449905909 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS144991102 MTR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
RS1449918930 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS144992780 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MPDZ-related disorder
RS144993105 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, NOD2-related disorder
RS1449932411 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144993791 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS144993986 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS144994244 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Cardiovascular phenotype
RS1449945045 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS144994507 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, Inborn genetic diseases
RS144994573 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, HMCN1-related disorder
RS144994831 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144994876 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS144994895 ARG1 Health Risk Conflicting classifications of pathogenicity Arginase deficiency, Gastric cancer
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