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
RS147826200 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS147826749 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia
RS147826775 ABCA4 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS147826962 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS147828649 KCNA1 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 1, KCNA1-related disorder
RS147828672 DNMT3A Health Risk Conflicting classifications of pathogenicity Myeloproliferative disorder, Tatton-Brown-Rahman overgrowth syndrome
RS147828742 PNPLA8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PNPLA8-related disorder
RS1478290807 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1478297270 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS1478299726 CFAP410 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy with or without macular staphyloma, Retinal dystrophy with or without macular staphyloma
RS1478304584 CLCN2 Health Risk Pathogenic Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Leukoencephalopathy with mild cerebellar ataxia and white matter edema
RS1478306331 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS147831535 FN1 Health Risk Conflicting classifications of pathogenicity Chronic kidney disease, Chronic kidney disease
RS147831812 CRYBB3 Health Risk Conflicting classifications of pathogenicity Cataract 22 multiple types, Inborn genetic diseases
RS1478322852 POPDC3 Health Risk Pathogenic Muscular dystrophy, limb-girdle
RS147832850 SLC1A1 Health Risk Conflicting classifications of pathogenicity Dicarboxylic aminoaciduria, Dicarboxylic aminoaciduria
RS1478334062 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS147834269 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS147835034 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS1478363532 PNPT1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 70, Autosomal recessive nonsyndromic hearing loss 70
RS1478365239 AK7 Health Risk Conflicting classifications of pathogenicity —
RS147836577 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS147836678 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS147837552 SUGCT Health Risk Conflicting classifications of pathogenicity —
RS147837686 SLC6A19 Health Risk Pathogenic Neutral 1 amino acid transport defect, Hyperglycinuria
RS147837803 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS147838240 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia, Hereditary spherocytosis type 4
RS1478383926 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS147838517 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS147838635 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS147839037 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Inborn genetic diseases
RS1478391225 CYFIP2 Health Risk Conflicting classifications of pathogenicity —
RS1478391725 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1478392446 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1478393931 ANO3 Health Risk Likely pathogenic Dystonia 24, Dystonic disorder
RS1478395810 COL17A1 Health Risk Likely pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS147839743 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS147840220 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Inborn genetic diseases
RS1478402636 RAB27A Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS147841035 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS147841245 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11
RS1478414043 CELSR3 Health Risk Likely pathogenic See cases, See cases
RS147841761 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS147842224 AFF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147842405 CHAMP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Complex neurodevelopmental disorder
RS147844088 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS147844153 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Inborn genetic diseases
RS147844226 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147844401 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, Inborn genetic diseases
RS1478450302 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Medulloblastoma
RS147845081 POMT2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1478464275 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS147846614 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS147846832 FLNB Health Risk Conflicting classifications of pathogenicity —
RS1478469981 LOXHD1 Health Risk Pathogenic —
RS147848144 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS147848649 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Cutis laxa
RS1478487771 SUOX Health Risk Likely pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS1478489747 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1478491971 HIBCH Health Risk Likely pathogenic See cases, See cases
RS147849568 DNAAF11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 19, Primary ciliary dyskinesia
RS1478500490 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS147850435 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS147850738 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS147851214 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS147852216 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1478523191 COLGALT1 Health Risk Pathogenic Brain small vessel disease 3, Brain small vessel disease 3
RS1478523808 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1478523884 COL4A3 Health Risk Pathogenic/Likely pathogenic —
RS147852474 COASY Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 6, COASY-related disorder
RS1478525243 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS147853281 NAGA Health Risk Conflicting classifications of pathogenicity Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 1
RS147853760 VRK1 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1A, Inborn genetic diseases
RS1478543114 WASHC5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS147854826 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS147854910 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147854989 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS1478566225 GUCY2D Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS1478570923 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1478574193 HPS6 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 6
RS1478574297 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1478582091 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS147858673 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1478587308 KCNV2 Health Risk Pathogenic Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS147859257 C3 Health Risk Conflicting classifications of pathogenicity MACULAR DEGENERATION, AGE-RELATED
RS147859619 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, PHEX-related disorder
RS1478601531 COL18A1 Health Risk Pathogenic —
RS1478603808 BAP1 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS147861291 ZHX3 Health Risk Conflicting classifications of pathogenicity ZHX3-related disorder, ZHX3-related disorder
RS147861417 KCNJ1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 2, Bartter disease type 2
RS1478618005 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1478633054 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS147863759 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS147863910 PIBF1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 33, Inborn genetic diseases
RS147864267 CFH Health Risk Conflicting classifications of pathogenicity Kidney disorder, Factor H deficiency
RS1478645822 CFI Health Risk Pathogenic CFI-related disorder, CFI-related disorder
RS147865593 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1478658114 FBXO11 Health Risk Conflicting classifications of pathogenicity Developmental disorder, Developmental disorder
RS147865925 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS147865931 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
« Prev 1 ... 685 686 687 688 689 690 691 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →