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
RS746313384 TNFSF11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 2, Inborn genetic diseases
RS746314274 ZMIZ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746314593 APOA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS746315218 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS746315507 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS746315718 CYP11B2 Health Risk Likely pathogenic —
RS746315830 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS746315995 ABCA12 Health Risk Conflicting classifications of pathogenicity —
RS746317037 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS746317294 SOS2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Noonan syndrome 9
RS746318136 POC1B Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 20, Inborn genetic diseases
RS746319045 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS746319505 CYP2U1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS746319722 SATB2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Chromosome 2q32-q33 deletion syndrome
RS746320156 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746320191 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS746320974 TOPORS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS746321506 TRIM32 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Sarcotubular myopathy
RS746322193 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS746322262 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS746322724 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS746323102 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Baller-Gerold syndrome
RS746323472 YY1 Health Risk Conflicting classifications of pathogenicity Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS746324091 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS746325928 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS746328450 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS746328978 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS746329051 MIPEP Health Risk Pathogenic —
RS746329317 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS746330518 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Cerebrooculofacioskeletal syndrome 1
RS746331416 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS746331438 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS746332288 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS746332363 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS746332433 AMPD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pontocerebellar hypoplasia type 9
RS746333044 CUL7 Health Risk Pathogenic/Likely pathogenic 3M syndrome 1, 3M syndrome 1
RS746333083 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS746335599 TBX1 Health Risk Conflicting classifications of pathogenicity Tetralogy of Fallot, DiGeorge syndrome
RS746336365 TRPV3 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
RS746338306 SZT2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 18
RS746339285 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS746339472 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS746339542 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS746340447 FANCE Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS746340627 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS746340772 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS746341018 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS746341112 NUP37 Health Risk Likely pathogenic Microcephaly 24, primary
RS746341454 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS746341530 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS746341645 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS746342377 PLOD3 Health Risk Pathogenic —
RS746342893 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS746343051 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS746343857 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS746344058 APOA4 Health Risk Conflicting classifications of pathogenicity —
RS746344900 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS746346292 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS746347634 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS746348793 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS746349613 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS746350036 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS746351112 LCA5 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 5
RS746353565 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
RS746353651 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Meacham syndrome
RS746354303 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS746354760 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS746355138 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS746355340 MFAP5 Health Risk Pathogenic —
RS746355462 DPAGT1 Health Risk Conflicting classifications of pathogenicity DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS746355740 ANKRD11 Health Risk Conflicting classifications of pathogenicity Intellectual disability, KBG syndrome
RS746356243 PNPT1 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 13, Inborn genetic diseases
RS746356513 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS746357519 TCOF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Treacher Collins syndrome 1
RS746357591 GMPPB Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS746358240 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS746358771 COL3A1 Health Risk Likely pathogenic —
RS746359389 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS746359399 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS746360455 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS746360476 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS746360576 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Retinoblastoma
RS746360632 MPDZ Health Risk Likely pathogenic Hydrocephalus, nonsyndromic
RS746361190 CNTNAP1 Health Risk Likely pathogenic Lethal congenital contracture syndrome 7, Lethal congenital contracture syndrome 7
RS746361802 CFAP298 Health Risk Pathogenic Primary ciliary dyskinesia 26, Primary ciliary dyskinesia 26
RS74636274 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS746362740 ATP1A2 Health Risk Likely pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS746362966 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS746364242 GRHPR Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
RS746364915 FDXR Health Risk Likely pathogenic —
RS746364980 CLDN19 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
RS746365230 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS746366131 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS746366461 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS746368198 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS746368269 TRPV4 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS746368304 DPYD Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, DPYD-related disorder
RS746369012 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS746369588 CNNM2 Health Risk Pathogenic Hypomagnesemia, seizures
RS746370059 SCARB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
« Prev 1 ... 3136 3137 3138 3139 3140 3141 3142 ... 4509 Next »

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

Get Started Free →