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
RS1415718078 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS141572748 FOCAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FOCAD-related disorder
RS141572895 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS1415733769 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS141573564 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS141574387 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS141574558 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS141574728 SLC27A5 Health Risk Conflicting classifications of pathogenicity SLC27A5-related disorder, SLC27A5-related disorder
RS1415750932 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1415753419 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1415756232 COL13A1 Health Risk Likely pathogenic —
RS1415757253 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS1415757819 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1415763185 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS141576417 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Desmoid disease
RS141576468 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS141577476 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1415783548 LAMC3 Health Risk Pathogenic —
RS141579198 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS1415796305 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS1415796889 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1415800050 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS141580750 TSEN2 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, TSEN2-related disorder
RS1415813169 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS141581673 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, DNAI2-related disorder
RS141581705 CACNA1D Health Risk Conflicting classifications of pathogenicity Dystonia, early-onset
RS1415819726 ADGRV1 Health Risk Pathogenic —
RS1415820936 DNAH1 Health Risk Pathogenic/Likely pathogenic Ciliary dyskinesia, primary
RS141582204 IFNAR1 Health Risk Conflicting classifications of pathogenicity —
RS141582478 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MYH9-related disorder
RS141582813 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome
RS1415833135 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS141584041 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS1415842374 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis, Aplastic anemia
RS1415854040 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS141585847 WFS1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, WFS1-related disorder
RS1415858976 MYO15A Health Risk Pathogenic Rare genetic deafness, MYO15A-related disorder
RS141586001 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS141586424 PDSS1 Health Risk Conflicting classifications of pathogenicity Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS141586518 ESRRB Health Risk Conflicting classifications of pathogenicity —
RS141586922 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1415870785 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS141587158 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, SLC3A1-related disorder
RS141588721 GMPPB Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS1415888089 ACTA2 Health Risk Pathogenic Aortic aneurysm, familial thoracic 6
RS1415890259 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS1415892964 GLRB Health Risk Pathogenic Hyperekplexia 2, Hyperekplexia 2
RS141589525 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1415895533 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS141589936 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS1415901923 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS141590446 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS141591543 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS141592108 EPS8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1415921261 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1415922203 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1415925468 FGFR1 Health Risk Conflicting classifications of pathogenicity —
RS141592774 EXPH5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141592778 FBN3 Health Risk Conflicting classifications of pathogenicity FBN3-related disorder, FBN3-related disorder
RS141592864 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1415931588 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS141593495 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS141593516 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1415935726 PNKP Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS141593936 LONP1 Health Risk Conflicting classifications of pathogenicity CODAS syndrome, Inborn genetic diseases
RS1415941409 FLVCR1 Health Risk Pathogenic —
RS1415942704 ALOXE3 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS1415944134 LAMA2 Health Risk Likely pathogenic Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS141594736 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, RASopathy
RS141594765 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS141596008 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS141596199 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Inborn genetic diseases
RS141596257 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, ELP1-related disorder
RS1415971328 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS1415973565 PC Health Risk Pathogenic/Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS141597421 FGG Health Risk Conflicting classifications of pathogenicity Congenital afibrinogenemia, Congenital afibrinogenemia
RS141597515 DPYD Health Risk Pathogenic/Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS141597706 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS141599092 TMEM260 Health Risk Likely pathogenic Structural heart defects and renal anomalies syndrome, Structural heart defects and renal anomalies syndrome
RS1415997308 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS1415999220 SLITRK6 Health Risk Likely pathogenic —
RS141601131 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases
RS1416011785 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1416012783 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS141601766 DDX41 Health Risk Pathogenic/Likely pathogenic DDX41-related hematologic malignancy predisposition syndrome, Bone marrow hypocellularity
RS141603023 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS141603403 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS1416038987 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS141604488 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS141605287 PLXNA2 Health Risk Conflicting classifications of pathogenicity PLXNA2-related disorder, PLXNA2-related disorder
RS141605301 SLC4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant distal renal tubular acidosis, Hemolytic anemia
RS141605519 CLCN2 Health Risk Conflicting classifications of pathogenicity Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema
RS141605537 SPAG1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 28, Primary ciliary dyskinesia
RS141605607 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS141605663 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1416057660 MUSK Health Risk Pathogenic Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS141607676 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS1416080494 ENPP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Type 2 diabetes mellitus
RS141608069 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1416085161 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
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