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
RS554544808 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, SPAST-related disorder
RS554545885 ASPM Health Risk Conflicting classifications of pathogenicity —
RS554554647 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS554557891 FGFR2 Health Risk Conflicting classifications of pathogenicity Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome
RS554560162 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, MYH7-related skeletal myopathy
RS554561043 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS554566423 SLC34A1 Health Risk Pathogenic —
RS554570575 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome 3, Microspherophakia
RS554599505 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS554600762 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS554602951 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS554607161 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS554614865 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Inborn genetic diseases
RS554618177 SLC26A1 Health Risk Conflicting classifications of pathogenicity SLC26A1-related disorder, Hypersulfaturia
RS554634510 SPINK5 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa
RS554637460 TSC1 Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Tuberous sclerosis 1
RS554639118 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS554645326 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS554648154 COL9A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS554657293 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS554663691 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS554675432 PROK2 Health Risk Pathogenic Hypogonadotropic hypogonadism 4 with or without anosmia, PROK2-related disorder
RS554676148 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS554677505 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS554680869 IL2RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS554680915 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS554690506 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS554698776 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Long QT syndrome
RS554725612 BEST1 Health Risk Pathogenic —
RS554727080 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Malignant tumor of urinary bladder
RS554729466 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS554736387 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS554737227 CHD7 Health Risk Pathogenic CHARGE syndrome, Inborn genetic diseases
RS554737427 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS554737718 PNPLA2 Health Risk Pathogenic Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS554738793 MITF Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A
RS554752905 POLRMT Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
RS554755694 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS554762368 WNT5A Health Risk Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 1, Inborn genetic diseases
RS554763314 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS554772608 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS554777392 SLC6A19 Health Risk Likely pathogenic Hyperglycinuria, Iminoglycinuria
RS554781314 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14
RS554787241 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS554790621 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS554794449 CLCNKB Health Risk Pathogenic Bartter syndrome, type 3
RS554795578 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS554800123 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS554801559 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS554804044 IGF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS554811924 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS554813030 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy type B5, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS554814659 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS554828530 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS554831935 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS554834063 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS554841820 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS554847663 OTOG Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Rare genetic deafness
RS554847828 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS554849907 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS554865241 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Late-onset retinal degeneration
RS554871778 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, Inborn genetic diseases
RS554874064 PLEKHG2 Health Risk Conflicting classifications of pathogenicity PLEKHG2-related disorder, PLEKHG2-related disorder
RS554884560 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS554894381 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 10
RS554894547 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS554899632 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lymphatic malformation 6
RS554899790 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS554917914 TAF8 Health Risk Pathogenic Neurodevelopmental disorder with severe motor impairment, absent language
RS554917974 HERC1 Health Risk Pathogenic/Likely pathogenic —
RS554927827 IFT140 Health Risk Pathogenic Retinitis pigmentosa 80, Renal cyst
RS554938323 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS554941574 PITRM1 Health Risk Conflicting classifications of pathogenicity —
RS554945964 PRPH2 Health Risk Conflicting classifications of pathogenicity Stargardt disease, PRPH2-related disorder
RS554957414 USH2A Health Risk Likely pathogenic USH2A-related disorder, Usher syndrome
RS554959327 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS554964716 RUNX2 Health Risk Conflicting classifications of pathogenicity Cleidocranial dysostosis, Cleidocranial dysostosis
RS554967424 RAB27A Health Risk Conflicting classifications of pathogenicity Griscelli syndrome type 2, Inborn genetic diseases
RS554968375 LTBP4 Health Risk Conflicting classifications of pathogenicity Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS554971107 DNM2 Health Risk Conflicting classifications of pathogenicity Centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B
RS554976086 ABCC2 Health Risk Pathogenic ABCC2-related disorder, Dubin-Johnson syndrome
RS554979175 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MACF1-related disorder
RS554984749 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nebulin-related early-onset distal myopathy
RS554985503 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS554989865 TPO Health Risk Conflicting classifications of pathogenicity —
RS555004124 REST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS555008215 ARHGEF18 Health Risk Conflicting classifications of pathogenicity ARHGEF18-related disorder, Inborn genetic diseases
RS555010961 GLRB Health Risk Conflicting classifications of pathogenicity Hyperekplexia 2, Inborn genetic diseases
RS555014060 ABCA3 Health Risk Conflicting classifications of pathogenicity Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS555017366 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS555019540 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS555021087 AUTS2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS555028656 QRICH2 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 35, Spermatogenic failure 35
RS555034652 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, LEOPARD syndrome 2
RS555034953 COL4A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant Alport syndrome
RS555044240 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS555045517 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, AMT-related disorder
RS555047442 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS555051245 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS555052906 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
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