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
RS772100045 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS772100288 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS772101793 CNOT3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Complex neurodevelopmental disorder
RS772102800 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS772103054 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS772104371 MYO15A Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS772104483 TFR2 Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS772104667 SLC26A2 Health Risk Conflicting classifications of pathogenicity Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4
RS772104870 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Dilated cardiomyopathy 1W
RS772105060 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS772105874 SPEN Health Risk Pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS772106134 SYN1 Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, Epilepsy
RS772108001 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS772108557 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS772110399 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS772110423 UBE3A Health Risk Likely pathogenic UBE3A-related disorder, UBE3A-related disorder
RS772110575 PIK3CA Health Risk Likely pathogenic Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, Neoplasm
RS772110733 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772111647 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS772111757 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772111782 NTRK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NTRK2-related disorder
RS772113008 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS772113192 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS772114165 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS772114461 STAT1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS772114554 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS772116480 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS772117132 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS772119268 AP4M1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS772120310 DNAJC12 Health Risk Pathogenic —
RS772121051 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Inborn genetic diseases
RS772121356 TTN Health Risk Pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS772122634 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS772123097 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS772123724 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS772124060 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS772124555 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS772124885 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS772125105 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS772126419 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS772127266 COQ8A Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS772127913 POLE Health Risk Conflicting classifications of pathogenicity Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Hereditary cancer-predisposing syndrome
RS772127988 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS772129644 SLC19A2 Health Risk Conflicting classifications of pathogenicity Megaloblastic anemia, thiamine-responsive
RS772130004 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Thyroid cancer
RS772130395 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS772130841 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS772131195 PLA2G6 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS772132735 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS772132996 CTSC Health Risk Pathogenic Haim-Munk syndrome, Periodontitis
RS772133192 DNAI2 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS772133269 DPAGT1 Health Risk Conflicting classifications of pathogenicity DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS772134978 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS772135704 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS772135786 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS772136379 ALMS1 Health Risk Pathogenic Alstrom syndrome, Retinal dystrophy
RS772137750 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS772138899 APOL1 Health Risk Conflicting classifications of pathogenicity —
RS772140514 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS772141202 SON Health Risk Conflicting classifications of pathogenicity ZTTK syndrome, ZTTK syndrome
RS772141546 GORAB Health Risk Pathogenic —
RS772141641 STXBP2 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS772141645 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS772142634 ITGB4 Health Risk Likely pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS772143528 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS772144411 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS772144518 ZNF292 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772145901 HCN2 Health Risk risk factor Febrile seizures, familial
RS772146113 RDX Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24
RS772146380 VRK1 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS772147085 SEMA4A Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 10, Retinitis pigmentosa
RS772148624 ADAMTS19 Health Risk Pathogenic Cardiac valvular dysplasia 2, Cardiac valvular dysplasia 2
RS772148835 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS772148994 USH1C Health Risk Pathogenic —
RS772150974 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS772150994 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS772151551 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS772152172 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS772153760 PNPT1 Health Risk Conflicting classifications of pathogenicity —
RS772153816 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS772154386 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS772156529 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS772156559 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS772157159 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS772157269 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS772157574 RAB28 Health Risk Pathogenic —
RS772157816 CDK10 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Inborn genetic diseases
RS772158739 LRP2 Health Risk Likely pathogenic —
RS77216005 DYNC1H1 Health Risk Likely pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
RS772161607 MAOA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Brunner syndrome
RS772161963 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS772162626 TTN Health Risk Conflicting classifications of pathogenicity —
RS77216276 SCN1A Health Risk Pathogenic Autosomal dominant epilepsy, Migraine
RS772163112 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS772164111 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS772164623 TPO Health Risk Pathogenic/Likely pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS772165395 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS772166066 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS772166712 HADHA Health Risk Conflicting classifications of pathogenicity Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS772168079 ADGRE2 Health Risk Conflicting classifications of pathogenicity Vibratory urticaria, Vibratory urticaria
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