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
RS751523859 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751524927 TET3 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS751526033 CYP24A1 Health Risk Pathogenic/Likely pathogenic Hypercalcemia, infantile
RS751526095 HPS5 Health Risk Likely pathogenic —
RS751526607 IDH3B Health Risk Likely pathogenic —
RS751526974 VSX2 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia
RS751527253 NPHP3 Health Risk Pathogenic/Likely pathogenic NPHP3-related Meckel-like syndrome, Nephronophthisis
RS751528808 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS751528863 RDX Health Risk Conflicting classifications of pathogenicity —
RS751529827 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS751532649 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS751533302 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS751534116 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS751534948 CHD4 Health Risk Likely pathogenic Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS751534972 SI Health Risk Pathogenic/Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS751535164 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS751535193 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica
RS751537483 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS751537617 AHDC1 Health Risk Conflicting classifications of pathogenicity AHDC1-related disorder, AHDC1-related disorder
RS751537797 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS751538672 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS751538967 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS751539473 PCDH15 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D
RS751539788 SETD5 Health Risk Pathogenic —
RS751540983 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS751542188 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS751543129 PTDSS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751545508 TUBGCP4 Health Risk Pathogenic —
RS751545674 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS751546090 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS751546336 SLC1A4 Health Risk Likely pathogenic —
RS751546658 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS751547595 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS751547630 SERAC1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS751548566 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS751548925 ARSL Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata, brachytelephalangic
RS751549678 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease
RS751551400 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS751551929 ATP13A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kufor-Rakeb syndrome
RS751553150 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS751554200 LPL Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS751555693 EIF2B4 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS751556332 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS751556970 COQ9 Health Risk Pathogenic Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
RS751557097 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Encephalopathy
RS751557279 MYO18B Health Risk Pathogenic —
RS751557477 OTOF Health Risk Conflicting classifications of pathogenicity —
RS751557941 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS751558324 FERMT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751559319 MPV17 Health Risk Conflicting classifications of pathogenicity —
RS751559990 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS751560567 FOXF1 Health Risk Pathogenic FOXF1-related disorder, FOXF1-related disorder
RS751560923 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS751561029 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS75156162 CRYGD Health Risk Conflicting classifications of pathogenicity Cataract 4 multiple types, Aculeiform cataract
RS751562376 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS751563078 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Noonan syndrome 9
RS751563432 POLE2 Health Risk Conflicting classifications of pathogenicity —
RS751564052 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS751564248 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS751564290 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS751564566 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS751564716 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS751564985 SIRT1 Health Risk Conflicting classifications of pathogenicity —
RS751565055 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS751565386 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS751566392 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8
RS751567476 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS751568153 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS751569402 DEAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS751569508 NCOR1 Health Risk Likely pathogenic Developmental delay, Hyperlaxity
RS751570713 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS751570775 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS751571034 GABRA1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS751571336 KDSR Health Risk Likely pathogenic Erythrokeratodermia variabilis et progressiva 4, Erythrokeratodermia variabilis et progressiva 4
RS751571463 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
RS751571517 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS751572082 RET Health Risk Likely pathogenic Aganglionic megacolon, Aganglionic megacolon
RS751572448 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS751573593 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS751574257 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS751574733 CYP27B1 Health Risk Conflicting classifications of pathogenicity CYP27B1-related disorder, Vitamin D-dependent rickets
RS751575036 SNAP29 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 2, CEDNIK syndrome
RS751575627 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751577470 RHAG Health Risk Conflicting classifications of pathogenicity Rh-null, regulator type
RS751581199 SZT2 Health Risk Pathogenic/Likely pathogenic —
RS751581475 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS751581773 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS751582616 PIK3R1 Health Risk Pathogenic/Likely pathogenic Vascular Malformations and Overgrowth, CLOVES syndrome
RS751582760 SMARCAL1 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS751583656 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS751583919 IFT74 Health Risk Likely pathogenic Joubert syndrome 40, Joubert syndrome 40
RS75158395 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS751584939 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS751585626 CHD4 Health Risk Conflicting classifications of pathogenicity Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome
RS751585966 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751586969 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS751587466 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS751587806 SLC4A11 Health Risk Pathogenic Corneal dystrophy-perceptive deafness syndrome, Congenital hereditary endothelial dystrophy of cornea
RS751589349 RNF125 Health Risk Conflicting classifications of pathogenicity Tenorio syndrome, Tenorio syndrome
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