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
RS756697215 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756698197 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS756700070 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS756700088 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS756703220 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS756703956 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS756705853 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS756707031 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Short QT syndrome
RS756707482 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS756707816 ABCC2 Health Risk Likely pathogenic —
RS756707967 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS756708811 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS756709080 MKS1 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS756709989 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, USH1C-related disorder
RS756710275 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS75671029 GBA1 Health Risk Conflicting classifications of pathogenicity Parkinson disease, late-onset
RS756710545 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS756711721 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS756712426 IDH3A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 90
RS756712640 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS756713104 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS756713165 ERCC6 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS756713928 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS756714219 PNPT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756714515 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B
RS756715291 DCLRE1C Health Risk Conflicting classifications of pathogenicity Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
RS756715989 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS756716111 POLR1A Health Risk Conflicting classifications of pathogenicity —
RS756716463 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Malignant tumor of breast
RS756716492 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS756717469 MOCS2 Health Risk Pathogenic —
RS756718353 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS756718556 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS756720838 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS756720856 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia
RS756723612 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes-Brocks syndrome 1
RS756723697 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS756724088 ATP1A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756725213 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Inborn genetic diseases
RS756726488 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS756727211 LTBP2 Health Risk Likely pathogenic —
RS756727559 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS756728965 TRIT1 Health Risk Pathogenic —
RS756729494 AGMO Health Risk Likely pathogenic See cases, See cases
RS756729691 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS756730335 GUCY2D Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS756730820 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756731280 SZT2 Health Risk Pathogenic —
RS756732717 TGM1 Health Risk Pathogenic —
RS756733330 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS756733436 DPYS Health Risk Likely pathogenic Dihydropyrimidinase deficiency, Hepatocellular carcinoma
RS756737864 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS756738076 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS756738709 ZSCAN10 Health Risk Pathogenic ZSCAN10 Deficiency, Sensorineural hearing loss disorder
RS756738723 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS756742718 ZNF423 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 14, Nephronophthisis 14
RS756743425 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS756743577 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS756743929 LAMB3 Health Risk Pathogenic Amelogenesis imperfecta type 1A, Junctional epidermolysis bullosa gravis of Herlitz
RS756743947 TAT Health Risk Pathogenic/Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS756745194 AMPD2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9
RS756746191 PNKP Health Risk Pathogenic Ataxia - oculomotor apraxia type 4, Ataxia - oculomotor apraxia type 4
RS756746198 NF1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS756746436 DUOX2 Health Risk Pathogenic —
RS756747669 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS756747776 RTN4IP1 Health Risk Pathogenic/Likely pathogenic RTN4IP1-related disorder, RTN4IP1-related disorder
RS756748588 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS756748918 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS756750256 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS756751716 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS756752153 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS756752580 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS756752655 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Inborn genetic diseases
RS756752990 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS756753673 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756753787 HCN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS756753955 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS756754311 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS756754760 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS756756799 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS756756960 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS756758566 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS756760904 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS756761746 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS756762102 GPR179 Health Risk Conflicting classifications of pathogenicity —
RS756762196 WWOX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS756763314 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, Inborn genetic diseases
RS756765022 RORB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756765686 MYL11 Health Risk Pathogenic/Likely pathogenic Distal arthrogryposis, Arthrogryposis
RS756766474 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS756768425 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kleefstra syndrome 2
RS756770138 STING1 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Inborn genetic diseases
RS756770572 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS756771290 ABCA12 Health Risk Likely pathogenic —
RS756771873 COL7A1 Health Risk Pathogenic —
RS756772340 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS756772840 MNX1 Health Risk Conflicting classifications of pathogenicity Currarino triad, Inborn genetic diseases
RS756772965 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS756773408 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS756776270 PTPRO Health Risk Conflicting classifications of pathogenicity PTPRO-related disorder, Nephrotic syndrome
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