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
RS766580479 SYNE4 Health Risk Pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS766580482 STAMBP Health Risk Pathogenic Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
RS766580649 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS766581183 MRE11 Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder
RS766581255 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS766581848 PTCHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autism
RS766582484 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, Costello syndrome
RS766583286 SLC9A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8
RS766583287 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS766583731 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS766583766 ADAM9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Gastric cancer
RS766583993 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS766584384 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS766585105 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS766585624 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS766585648 CKAP2L Health Risk Conflicting classifications of pathogenicity Filippi syndrome, Inborn genetic diseases
RS766585725 SLC12A3 Health Risk Pathogenic —
RS766586470 TSEN54 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Pontoneocerebellar hypoplasia
RS766586765 TAP2 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS766587351 ATP6V0A4 Health Risk Pathogenic/Likely pathogenic Renal tubular acidosis, distal
RS766589204 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS766589324 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS766589333 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS766589514 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS766589610 LRP5 Health Risk Pathogenic/Likely pathogenic 6 conditions, 6 conditions
RS766590491 USH2A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Retinitis pigmentosa 39
RS766590645 ADA Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS76659072 CEP135 Health Risk Conflicting classifications of pathogenicity CEP135-related disorder, CEP135-related disorder
RS766591558 B4GALNT1 Health Risk Pathogenic Hereditary spastic paraplegia 26, Hereditary spastic paraplegia 26
RS766592492 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS766592611 FBN2 Health Risk Conflicting classifications of pathogenicity FBN2-related disorder, Familial thoracic aortic aneurysm and aortic dissection
RS766592623 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS766593943 DONSON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766594761 GRM6 Health Risk Pathogenic Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS766595156 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS766595464 STRC Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS766598337 SETD1A Health Risk Conflicting classifications of pathogenicity See cases, Neurodevelopmental disorder with speech impairment and dysmorphic facies
RS766598800 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS766599250 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS766599883 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS766600036 OFD1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Joubert syndrome
RS766600687 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS766600801 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS766601503 DMP1 Health Risk Pathogenic —
RS766601997 MCM3AP Health Risk Likely pathogenic —
RS766602053 PPOX Health Risk Pathogenic/Likely pathogenic —
RS766602179 HPS5 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome
RS766602645 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS766602873 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS766602945 ADA2 Health Risk Pathogenic/Likely pathogenic Deficiency of adenosine deaminase 2, Sneddon syndrome
RS766603266 NLRP12 Health Risk Pathogenic/Likely pathogenic Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS766603281 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS766603377 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS766604570 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS766604600 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS766605124 TGM6 Health Risk Pathogenic Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS766608278 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS766608409 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS766608647 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS766608755 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS766609184 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS766609529 PCARE Health Risk Pathogenic —
RS766609884 DEF6 Health Risk Pathogenic —
RS766610061 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS766611189 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS766612482 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS766613420 NCF4 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS766613810 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS766614772 TRAPPC9 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 13
RS766614906 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Regional enteritis
RS766614917 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS766614995 PDGFRB Health Risk Conflicting classifications of pathogenicity Infantile myofibromatosis, Acroosteolysis-keloid-like lesions-premature aging syndrome
RS766615352 GNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-D
RS766615729 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS766616130 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS766616967 WDR19 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS766617434 NAXE Health Risk Pathogenic —
RS766617896 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS766618785 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group L, Fanconi anemia
RS766619723 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS766620661 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS766622060 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS766622461 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS766623034 ATAD3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Harel-Yoon syndrome
RS766624923 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS766625084 ERI1 Health Risk Likely pathogenic ERI1-associated disorder, Hoxha-Aliu syndrome
RS766629205 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS766629618 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, Inborn genetic diseases
RS766629924 DIS3L2 Health Risk Pathogenic/Likely pathogenic Perlman syndrome, Perlman syndrome
RS766629930 ERCC6 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS766631025 POU4F3 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS766631462 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis
RS766632082 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS766632505 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS766632988 COL10A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766633448 CSPP1 Health Risk Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS766633588 UIMC1 Health Risk Likely pathogenic —
RS766633897 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS766634159 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766635238 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
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