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
RS1278874733 MTOR Health Risk Conflicting classifications of pathogenicity —
RS1278896715 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS1278916117 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1278959534 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1278985870 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1278985995 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1278986760 PIK3CA Health Risk Pathogenic/Likely pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome, PIK3CA related overgrowth syndrome
RS1278993777 TRPM4 Health Risk Pathogenic Erythrokeratodermia variabilis et progressiva 6, Erythrokeratodermia variabilis et progressiva 6
RS1279013275 USH2A Health Risk Likely pathogenic —
RS1279022230 MED17 Health Risk Pathogenic —
RS1279028766 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome 3
RS1279032783 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS1279037770 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1279037975 EHMT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kleefstra syndrome 1
RS1279041730 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1279080725 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1279095388 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS1279109316 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS1279136929 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS1279137766 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS1279142467 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1279143530 DMD Health Risk Pathogenic Progressive muscular dystrophy, Progressive muscular dystrophy
RS1279184426 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1279216400 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1279221790 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS1279240593 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS1279257124 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1279294789 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS1279297832 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS1279321570 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS12793516 FAR1 Health Risk Conflicting classifications of pathogenicity Fatty acyl-CoA reductase 1 deficiency, Inborn genetic diseases
RS1279354218 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS1279357583 ALPK3 Health Risk Pathogenic —
RS1279378587 PRPF8 Health Risk Pathogenic —
RS1279397908 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Idiopathic Pulmonary Fibrosis
RS1279409996 DARS2 Health Risk Conflicting classifications of pathogenicity Spastic ataxia, Mitochondrial disease
RS1279412522 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS1279417718 YARS1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease dominant intermediate C, Neurologic
RS1279429799 AHCY Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS1279435643 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1279453812 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1279465588 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1279487074 WDR47 Health Risk Likely pathogenic See cases, See cases
RS1279489246 ZNF469 Health Risk Pathogenic —
RS1279500513 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS1279505129 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1279522242 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1279522271 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1279522825 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1279529138 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1279554995 CHAT Health Risk Pathogenic/Likely pathogenic Familial infantile myasthenia, Congenital myasthenic syndrome
RS1279558746 NR2E3 Health Risk Pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS1279559326 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Bloom syndrome
RS1279560054 HGF Health Risk Likely pathogenic —
RS1279587663 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1279589989 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1279595214 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS1279603411 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS1279603512 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1279608901 HERC2 Health Risk Likely pathogenic See cases, See cases
RS1279619378 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS1279639790 FREM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1279646895 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1279657093 ADNP Health Risk Conflicting classifications of pathogenicity ADNP-related disorder, ADNP-related disorder
RS1279658001 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS1279680398 COL17A1 Health Risk Pathogenic —
RS1279700648 TET2 Health Risk Pathogenic —
RS1279708959 ASXL1 Health Risk Conflicting classifications of pathogenicity Bohring-Opitz syndrome, Inborn genetic diseases
RS1279711396 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS1279728239 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1279737892 SPINT2 Health Risk Likely pathogenic —
RS1279743247 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 2
RS1279762700 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1279770165 PTPN11 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 1, Cardiovascular phenotype
RS1279770682 SPTBN4 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, neuropathy
RS1279777367 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1279778532 PLEC Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5C
RS1279789023 ORC6 Health Risk Pathogenic Meier-Gorlin syndrome 3, Meier-Gorlin syndrome 3
RS1279793527 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1279807211 LDB3 Health Risk Conflicting classifications of pathogenicity LDB3-related disorder, Myofibrillar myopathy 4
RS1279823900 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1279830238 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1279835702 TALDO1 Health Risk Likely pathogenic Deficiency of transaldolase, Deficiency of transaldolase
RS1279849861 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1279852557 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS1279862720 ADGRV1 Health Risk Likely pathogenic Usher syndrome type 2C, Febrile seizures
RS1279863038 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia 15
RS1279892568 CDK13 Health Risk Conflicting classifications of pathogenicity —
RS1279906432 TULP1 Health Risk Likely pathogenic Retinitis pigmentosa 14, TULP1-related disorder
RS1279918132 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS12799308 FAR1 Health Risk Likely pathogenic CATARACTS, SPASTIC PARAPLEGIA
RS1279971868 EPHB4 Health Risk Pathogenic/Likely pathogenic Capillary malformation-arteriovenous malformation 2, Lymphatic malformation 7
RS1279981768 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS1279988199 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1279989885 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS12800 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS1280004443 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Hereditary cancer-predisposing syndrome
RS1280042397 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1280052681 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1280088838 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
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