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
RS527518431 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian cancer
RS527518565 FGFR1 Health Risk Conflicting classifications of pathogenicity Osteoglophonic dysplasia, Trigonocephaly 1
RS527520015 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS527523781 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J
RS527530568 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Retinal arterial tortuosity
RS527536011 LOXHD1 Health Risk Pathogenic/Likely pathogenic —
RS527550554 LHCGR Health Risk Conflicting classifications of pathogenicity Gonadotropin-independent familial sexual precocity, Gonadotropin-independent familial sexual precocity
RS527555537 LTBP3 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Inborn genetic diseases
RS527562872 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS527568726 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS527571090 MYH9 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, Inborn genetic diseases
RS527574888 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS527576067 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS527590016 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS527593084 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS527598803 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS527608109 LAMA5 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, Inborn genetic diseases
RS527609978 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS527612343 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Inborn genetic diseases
RS527613008 ALPL Health Risk Conflicting classifications of pathogenicity Adult hypophosphatasia, Childhood hypophosphatasia
RS527624522 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS527624888 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS527636904 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS527639885 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related disorder, LAMB2-related infantile-onset nephrotic syndrome
RS527640350 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS527642993 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 48
RS527644737 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS527650370 NSUN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NSUN2-related disorder
RS527653764 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS527655595 TREH Health Risk Conflicting classifications of pathogenicity alpha, alpha-Trehalase deficiency
RS527655625 WT1 Health Risk Conflicting classifications of pathogenicity Frasier syndrome, Wilms tumor 1
RS527656756 HAAO Health Risk Pathogenic Congenital NAD deficiency disorder, Vertebral
RS527663050 SORCS2 Health Risk Conflicting classifications of pathogenicity —
RS527663092 TTN Health Risk Conflicting classifications of pathogenicity —
RS527664718 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS527675104 OAS1 Health Risk Conflicting classifications of pathogenicity —
RS527677472 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS527679322 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis imperfecta
RS527679524 ZEB2 Health Risk Pathogenic Abnormality of the nervous system, Mowat-Wilson syndrome
RS527688117 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS527694612 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, MERTK-related disorder
RS527698386 TACR3 Health Risk Pathogenic See cases, See cases
RS527699516 CTU2;PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS527701970 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Senior-Loken syndrome 4
RS527702358 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia of anesthesia, Malignant hyperthermia
RS527704660 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS527718527 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS527722269 ACO2 Health Risk Conflicting classifications of pathogenicity —
RS527726480 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS527736027 UHRF1 Health Risk Conflicting classifications of pathogenicity —
RS527738649 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, ATP6V1B1-related disorder
RS527741368 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS527742213 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, Inborn genetic diseases
RS527747924 FSCN2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS527750995 ORC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS527757515 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, RAI1-related disorder
RS527763642 TTBK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TTBK2-related disorder
RS527766106 KIF7 Health Risk Likely pathogenic Acrocallosal syndrome, Acrocallosal syndrome
RS527766429 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS527767244 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS527769846 FHOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS527787676 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS527789070 NALCN Health Risk Pathogenic —
RS527789195 TJP2 Health Risk Conflicting classifications of pathogenicity —
RS527789602 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS527795536 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS527798413 SNCA Health Risk Conflicting classifications of pathogenicity Parkinson Disease, Dominant
RS527800020 RDH12 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis
RS527805112 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, DDC-related disorder
RS527810384 OBSCN Health Risk Likely pathogenic —
RS527819721 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS527830114 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS527835644 BRAF Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS527842266 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS527843566 BCHE Health Risk Likely pathogenic BCHE, H variant
RS527844265 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS527844629 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS527847958 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ALPK3-related disorder
RS527856744 IFT80 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 2, Jeune thoracic dystrophy
RS527864393 ENO3 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
RS527878975 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS527880727 MYT1L Health Risk Pathogenic Intellectual disability, autosomal dominant 39
RS527888621 SCO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS527888978 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS527890421 GABRA1 Health Risk Conflicting classifications of pathogenicity —
RS527890624 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, APP-related disorder
RS527892258 NOD2 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome
RS527904726 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS527911312 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Long QT syndrome
RS527912796 TCF20 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Inborn genetic diseases
RS527914224 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS527921534 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS527922611 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS527924868 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS527929031 CHN1 Health Risk Conflicting classifications of pathogenicity Duane retraction syndrome 2, Duane retraction syndrome 2
RS527943085 ZFHX2 Health Risk Conflicting classifications of pathogenicity —
RS527943422 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS527944843 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS527945609 COL9A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS527946206 CPAP Health Risk Conflicting classifications of pathogenicity Seckel syndrome 4, Microcephaly 6
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