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
RS140097800 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS140098074 NPAT Health Risk Conflicting classifications of pathogenicity —
RS1400982168 MYO15A Health Risk Pathogenic —
RS140098565 KRT1 Health Risk Conflicting classifications of pathogenicity Epidermolytic ichthyosis, Diffuse nonepidermolytic palmoplantar keratoderma
RS140098686 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS140099471 CPT1C Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS140099868 IRF4 Health Risk Conflicting classifications of pathogenicity —
RS1401003961 MED12 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability with marfanoid habitus, FG syndrome 1
RS140100815 POLD2 Health Risk Conflicting classifications of pathogenicity —
RS1401015526 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1401015954 MKS1 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS140101603 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS140101984 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS140102105 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Inborn genetic diseases
RS140102515 DDOST Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation type Ir, Congenital disorder of glycosylation type Ir
RS140102591 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS1401027751 SLC19A2 Health Risk Pathogenic Megaloblastic anemia, thiamine-responsive
RS140102921 VWA1 Health Risk Conflicting classifications of pathogenicity —
RS1401031291 KCNK4 Health Risk Conflicting classifications of pathogenicity Facial dysmorphism, hypertrichosis
RS1401035675 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1401043626 MATN3 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5
RS1401047759 TNNT1 Health Risk Pathogenic —
RS140104789 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS140105243 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS140106241 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS140106332 GRHL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140106499 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS140106583 TBC1D8B Health Risk Conflicting classifications of pathogenicity TBC1D8B-related disorder, TBC1D8B-related disorder
RS140106769 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS140107330 CFH Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical
RS1401073549 AMN Health Risk Pathogenic/Likely pathogenic AMN-related disorder, Imerslund-Grasbeck syndrome
RS140107510 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group 7
RS1401078432 ENPP1 Health Risk Pathogenic/Likely pathogenic —
RS1401082365 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS140108514 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS140109751 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1401103913 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS140111079 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiofaciocutaneous syndrome 4
RS140111105 ABCG5 Health Risk Pathogenic Sitosterolemia, Sitosterolemia 2
RS1401116572 RYR2 Health Risk Pathogenic Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS140112462 CANT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, CANT1-related disorder
RS140112967 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS1401145684 WDR19 Health Risk Pathogenic/Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS140115275 AFF3 Health Risk Conflicting classifications of pathogenicity AFF3-related disorder, AFF3-related disorder
RS140115503 TANGO2 Health Risk Pathogenic Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
RS140116005 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1401166141 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1401166273 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS140117045 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1401171363 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS1401175486 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS140117869 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS140117984 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS1401183537 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS140118684 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS140119177 FAM120AOS Health Risk Likely pathogenic 9 conditions, 9 conditions
RS140121479 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS1401221727 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1401228518 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1401228799 VARS1;VARS2 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS1401235358 MYH14 Health Risk Likely pathogenic —
RS140124051 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS140124616 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS140124953 TPO Health Risk Likely pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS1401249843 KDM3B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140124986 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS1401253918 STAMBP Health Risk Pathogenic/Likely pathogenic —
RS140125843 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS140126185 NDUFS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 5
RS140126499 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS140127085 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS1401272017 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Charcot-Marie-Tooth disease axonal type 2Z
RS140127543 IFT43 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81
RS140128583 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS140129534 C6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140129800 COX6A2 Health Risk Conflicting classifications of pathogenicity COX6A2-related disorder, COX6A2-related disorder
RS140130028 ACYP1;NPC2 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C2
RS140130551 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1401319182 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1401322428 COL27A1 Health Risk Pathogenic Steel syndrome, Steel syndrome
RS1401324575 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1401325502 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS140132974 SOHLH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 32, Spermatogenic Failure
RS140133265 ANXA11 Health Risk Conflicting classifications of pathogenicity ANXA11-related disorder, Amyotrophic lateral sclerosis type 23
RS140133472 C2 Health Risk Conflicting classifications of pathogenicity —
RS140133667 PEX10 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Peroxisome biogenesis disorder
RS140134223 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS140134749 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS140135049 BFSP1 Health Risk Conflicting classifications of pathogenicity Cataract 33, Inborn genetic diseases
RS140135222 ATP1A1 Health Risk Likely pathogenic —
RS1401353772 PLCZ1 Health Risk Pathogenic Spermatogenic failure 17, Spermatogenic failure 17
RS1401354711 EYS Health Risk Pathogenic —
RS140135628 PDE10A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1401356668 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS140135726 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS140136483 PPP2R5D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS1401366375 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS140136749 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS140137568 DYNC2I1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases
RS1401377322 PJVK Health Risk Conflicting classifications of pathogenicity —
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