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
RS768929630 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS768929728 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS768930646 PNPLA8 Health Risk Pathogenic —
RS768930904 CTPS1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to CTPS1 deficiency, Combined immunodeficiency due to CTPS1 deficiency
RS768932305 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS768932465 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS768933093 BBS10 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Bardet-Biedl syndrome 10
RS768933887 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS768934658 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS768935968 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS768936623 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS768937237 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Noonan syndrome and Noonan-related syndrome
RS768938856 ROBO1 Health Risk Conflicting classifications of pathogenicity —
RS768939011 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS768939660 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS768939677 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS768940499 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1
RS76894072 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS768940761 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS768941857 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS768941858 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS768942138 TSFM Health Risk Conflicting classifications of pathogenicity —
RS768942294 TAF6 Health Risk Conflicting classifications of pathogenicity Alazami-Yuan syndrome, Alazami-Yuan syndrome
RS768942598 TCAP Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
RS768943469 AASS Health Risk Likely pathogenic —
RS768943773 ADAR Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6
RS768944836 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Rabin-Pappas syndrome
RS768944975 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS768945306 FYCO1 Health Risk Pathogenic Cataract 18, Cataract 18
RS768945314 EIF2B1 Health Risk Pathogenic/Likely pathogenic —
RS768946685 SUCLG2 Health Risk Conflicting classifications of pathogenicity —
RS768947464 LTBP2 Health Risk Pathogenic —
RS768947696 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS768949300 COL18A1 Health Risk Pathogenic —
RS768949488 LONP1 Health Risk Conflicting classifications of pathogenicity CODAS syndrome, CODAS syndrome
RS768949621 EFTUD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768950720 PRMT7 Health Risk Likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS768950814 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS768950892 TRAPPC12 Health Risk Pathogenic/Likely pathogenic Progressive childhood encephalopathy, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
RS768950975 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS768951263 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS768951384 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A1-related disorder
RS768951837 RMND1 Health Risk Likely pathogenic —
RS768951961 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS76895198 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS768952241 POLE Health Risk Likely pathogenic —
RS76895298 FANCC Health Risk Pathogenic Fanconi anemia, Hereditary cancer-predisposing syndrome
RS768953378 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS768954113 ERCC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768954546 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, Inborn genetic diseases
RS768954904 CRTAP Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS768957161 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS768958602 SYNE1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia, Beauce type
RS768958770 NEU1 Health Risk Pathogenic/Likely pathogenic Sialidosis, Sialidosis
RS768958947 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS768959428 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS768959472 CNGB3 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Achromatopsia 3
RS76896145 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS768961892 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS768962576 NIN Health Risk Conflicting classifications of pathogenicity —
RS768963343 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS768963919 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS768964210 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS768965998 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS768966657 CDKN2A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial melanoma
RS768967844 RFWD3 Health Risk Conflicting classifications of pathogenicity —
RS768968410 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, MYPN-related myopathy
RS768968718 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS768968736 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS768970494 GLRA1 Health Risk Conflicting classifications of pathogenicity Hereditary hyperekplexia, Inborn genetic diseases
RS768972285 DIP2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, FRA12A type
RS768973809 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS768974835 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS768974881 SPATA31A3 Health Risk Conflicting classifications of pathogenicity —
RS768975918 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS768976020 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Childhood hypophosphatasia
RS768978068 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome due to CREBBP mutations
RS768978351 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS768978701 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS768979615 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS768980918 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Inborn genetic diseases
RS768981892 SIX5 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
RS768982423 LIPC Health Risk Conflicting classifications of pathogenicity Hyperlipidemia due to hepatic triglyceride lipase deficiency, LIPC-related disorder
RS768983518 SNORA31 Health Risk risk factor Encephalopathy, acute
RS768983827 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS768984787 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS768985094 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS768986129 RSPH4A Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 11, Primary ciliary dyskinesia
RS768986314 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS768986492 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS768987002 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS768987322 GARS1 Health Risk Conflicting classifications of pathogenicity Distal spinal muscular atrophy, Charcot-Marie-Tooth disease type 2D
RS768987774 ADA2 Health Risk Pathogenic/Likely pathogenic Deficiency of adenosine deaminase 2, Sneddon syndrome
RS768988213 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS768989325 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS768989830 FBXO43 Health Risk Pathogenic Oocyte maturation defect 12, Spermatogenic failure 64
RS768989856 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS768990826 ARFGEF2 Health Risk Conflicting classifications of pathogenicity —
RS768991876 DYNC1H1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 13
RS768992778 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
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