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
RS772305736 RASGRP1 Health Risk Pathogenic/Likely pathogenic Immunodeficiency 64, Immunodeficiency 64
RS772306012 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS772306395 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa, Epidermolysis bullosa
RS772306849 NFE2L2 Health Risk Conflicting classifications of pathogenicity —
RS772308280 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS772308346 AIFM1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X
RS772308703 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, 8 conditions
RS772311757 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS772312309 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772312644 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS772312984 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS772314175 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS772315985 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS772316134 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS772317024 USH2A Health Risk Conflicting classifications of pathogenicity —
RS772317162 SLC4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant distal renal tubular acidosis, Hereditary spherocytosis type 4
RS772318314 AHDC1 Health Risk Conflicting classifications of pathogenicity AHDC1-related disorder, AHDC1-related disorder
RS772318333 MTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS772319506 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Colorectal cancer
RS772319851 NUS1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, type IAA
RS772320287 FIG4 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J
RS772321133 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS77232189 SLC17A8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772322516 IKZF1 Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS772323218 PEX13 Health Risk Likely pathogenic PEX13-related disorder, PEX13-related disorder
RS772323929 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS772324268 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS772324426 HK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772324459 OCA2 Health Risk Conflicting classifications of pathogenicity Nonsyndromic Oculocutaneous Albinism, Tyrosinase-positive oculocutaneous albinism
RS772324460 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS772324772 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS772325482 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772325487 PCARE Health Risk Pathogenic Retinitis pigmentosa 54, Retinitis pigmentosa 54
RS772325649 CEP250 Health Risk Pathogenic —
RS772325682 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS772325722 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS772325936 ACO2 Health Risk Likely pathogenic Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
RS772326970 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, PHKB-related disorder
RS772327011 DCTN2 Health Risk Conflicting classifications of pathogenicity —
RS772327699 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS772327731 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS772328554 DOCK7 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 23
RS772329652 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS772330738 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS772330879 EPB42 Health Risk Likely pathogenic Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS772331713 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS772332566 MEFV Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Familial Mediterranean fever
RS772333047 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS772333765 TRAPPC12 Health Risk Pathogenic Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Gastric cancer
RS772334351 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS772334379 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS772334382 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS772336192 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS772336725 GGCX Health Risk Likely pathogenic —
RS772337149 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS772337722 SCN9A Health Risk Conflicting classifications of pathogenicity Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS772338095 COL4A1 Health Risk Conflicting classifications of pathogenicity —
RS772339340 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS772339721 TGFBR1 Health Risk Likely pathogenic —
RS772339760 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS772339877 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS772340017 RAG1 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS772340154 ROGDI Health Risk Likely pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS772340282 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS772342691 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS772343264 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS772343871 POLR1C Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
RS772344220 OTOF Health Risk Likely pathogenic —
RS772344354 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS772344759 ITGB4 Health Risk Pathogenic —
RS772344964 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS772345347 ANO10 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS772347173 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS772347389 NCAPD2 Health Risk Likely pathogenic Microcephaly 21, primary
RS772347559 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS772347736 FOXE3 Health Risk Likely pathogenic Congenital primary aphakia, Congenital primary aphakia
RS772348111 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS772348846 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS772348877 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS772349788 TRIM8 Health Risk Pathogenic Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome
RS772349876 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS772351035 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS772351764 MPDZ Health Risk Pathogenic Hydrocephalus, nonsyndromic
RS772352167 RFX5 Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS772352819 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS772352938 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS772352960 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS772355396 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS772355721 APOA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS772356536 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS772357412 WFS1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
RS772358387 SEC23B Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II
RS772358989 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS772359099 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS772359178 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS772360004 PLXNA1 Health Risk Conflicting classifications of pathogenicity Dworschak-Punetha neurodevelopmental syndrome, PLXNA1-related disorder
RS772361572 CYB561 Health Risk Pathogenic Orthostatic hypotension 2, Orthostatic hypotension 2
RS772361606 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS772361735 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772361876 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
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