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
RS758542902 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS758543218 ALDH18A1 Health Risk Pathogenic Autosomal dominant spastic paraplegia type 9, de Barsy syndrome
RS758543580 TCF12 Health Risk Pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS758546167 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS758546717 TBRG1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS758546951 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, RASopathy
RS758547221 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS758547965 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS758548498 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS758549770 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS758549961 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS758550101 NDP Health Risk Pathogenic —
RS758550328 GYS1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS758550330 RPE65 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS758550675 CEP290 Health Risk Pathogenic Joubert syndrome 5, Nephronophthisis
RS758550765 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS758551389 SERPINF1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS758551462 NIPA1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 6
RS758551684 PPA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sudden cardiac failure
RS758551913 ITGB4 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS758551997 TELO2 Health Risk Conflicting classifications of pathogenicity TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder
RS758552293 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype
RS758552587 KERA Health Risk Pathogenic KERA-related disorder, KERA-related disorder
RS758553530 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS758553809 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS758553918 DPM1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS758554049 COLQ Health Risk Likely pathogenic Congenital myasthenic syndrome 5, Synaptic congenital myasthenic syndromes
RS758554896 RFX3 Health Risk Likely pathogenic —
RS758555088 USH1C Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS758555274 KMT2D Health Risk Pathogenic —
RS758555346 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS758555433 CD19 Health Risk Likely pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS758555487 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS758555741 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS758557098 MYO15A Health Risk Pathogenic —
RS758557229 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS758557526 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS758558608 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS758558609 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, NPHP3-related disorder
RS758558970 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS758560911 MYH14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758561093 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS758561213 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS758561541 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS758561591 SERPING1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758561622 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS758561884 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS758562003 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS758562288 DIAPH1 Health Risk Likely pathogenic DIAPH1-related disorder, DIAPH1-related disorder
RS758563983 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS758564326 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS758564871 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS758564937 GALE Health Risk Likely pathogenic UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS758565569 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS758566439 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS758567108 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Orofaciodigital syndrome type 6
RS758567247 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS758567660 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS758568142 ABCA12 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4A
RS758569568 ASXL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758569834 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS758570139 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS75857070 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS758570844 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS758571008 GJC2 Health Risk Likely pathogenic Hereditary spastic paraplegia 44, Hereditary spastic paraplegia 44
RS758571672 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS758572409 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS758574474 NDUFA9 Health Risk Conflicting classifications of pathogenicity —
RS758575745 GLDC Health Risk Pathogenic Glycine encephalopathy, Retinitis pigmentosa
RS758575947 KRAS Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS758576042 PROC Health Risk Pathogenic/Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS758576419 ANK3 Health Risk Conflicting classifications of pathogenicity —
RS758577372 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS758579805 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758579958 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS758580075 RYR1 Health Risk Pathogenic RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS758580558 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS758582935 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS758583548 RGS9BP Health Risk Pathogenic Bradyopsia, Bradyopsia
RS758584771 ABCA4 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS758585834 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS758586312 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS758586599 EP300 Health Risk Conflicting classifications of pathogenicity EP300-related disorder, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS758587018 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS758588019 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS758588310 BICD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS758588319 KMT2D Health Risk Conflicting classifications of pathogenicity Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, Kabuki syndrome 1
RS758588684 WWOX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS758589013 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS758589097 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS758589172 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS758590520 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS758591562 RASGRP1 Health Risk Pathogenic —
RS758592774 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS758593134 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS75859409 PRDM1 Health Risk Conflicting classifications of pathogenicity —
RS758594181 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS758595075 PYCR2 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS758595508 DHFR;MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS758596783 VCP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
« Prev 1 ... 3334 3335 3336 3337 3338 3339 3340 ... 4509 Next »

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

Get Started Free →