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
RS1373365760 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1373380416 TG Health Risk Pathogenic —
RS1373388852 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1373389153 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
RS1373416532 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1373462009 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1373464667 SLC34A3 Health Risk Conflicting classifications of pathogenicity SLC34A3-related disorder, Autosomal recessive hypophosphatemic bone disease
RS1373472758 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1373474125 DLG3 Health Risk Pathogenic Intellectual disability, X-linked 90
RS1373474566 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS1373475251 CHD8 Health Risk Likely pathogenic CHD8-related disorder, CHD8-related disorder
RS1373493309 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1373493567 RINT1 Health Risk Likely pathogenic —
RS1373494663 IFIH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Singleton-Merten syndrome 1
RS1373499246 LAMB3 Health Risk Pathogenic —
RS1373505634 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS1373513306 SLC35A3 Health Risk Likely pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS1373545506 SYNJ1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 53
RS1373550452 MECR Health Risk Conflicting classifications of pathogenicity —
RS1373571533 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS1373580534 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Inborn genetic diseases
RS1373597092 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1373607946 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1373610867 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1373614735 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1373623383 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1373626737 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1373632260 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1373635087 CTF1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1373642781 OPLAH Health Risk Conflicting classifications of pathogenicity 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS1373645311 HPDL Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1373662309 PROKR2 Health Risk Pathogenic —
RS1373671407 CYP1B1 Health Risk Pathogenic Congenital glaucoma, Congenital glaucoma
RS1373671710 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1373685560 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1373689003 HPDL Health Risk Likely pathogenic —
RS1373690375 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1373700967 APOA1 Health Risk Pathogenic —
RS1373714510 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1373733895 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SCN1A-related disorder
RS1373739660 HPDL Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS1373760209 DLL4 Health Risk Likely pathogenic Adams-Oliver syndrome 6, Adams-Oliver syndrome 6
RS1373774924 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS1373783639 ACTL6B Health Risk Pathogenic Developmental and epileptic encephalopathy, 76
RS1373789245 ERLEC1 Health Risk Likely pathogenic Mandibular prognathia, Mandibular prognathia
RS1373797370 SOX10 Health Risk Likely pathogenic Waardenburg syndrome type 4C, Waardenburg syndrome type 4C
RS1373798392 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS1373820202 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1373833359 RPGR Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS1373848573 HSPG2 Health Risk Likely pathogenic Lethal Kniest-like syndrome, Lethal Kniest-like syndrome
RS1373861722 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1373863123 ACTB Health Risk Likely pathogenic ACTB-related BAFopathy, Baraitser-Winter syndrome 1
RS1373869540 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS1373876757 PMM2 Health Risk Likely pathogenic —
RS1373884863 CASQ2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS1373899196 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1373906090 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1373910050 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia 2, Glanzmann thrombasthenia 2
RS1373930486 UGT1A1 Health Risk Pathogenic/Likely pathogenic Gilbert syndrome, Gilbert syndrome
RS1373938186 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1373951958 MYO7A Health Risk Pathogenic —
RS1373970320 LAMA1 Health Risk Pathogenic/Likely pathogenic —
RS1374011263 LZTR1 Health Risk Pathogenic/Likely pathogenic LZTR1-related schwannomatosis, Cardiovascular phenotype
RS1374014119 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1374026152 SLC25A11 Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 6, Pheochromocytoma/paraganglioma syndrome 6
RS1374026497 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1374036185 TMEM70 Health Risk Likely pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS1374072630 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1374086784 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1374110015 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS1374110692 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1374116117 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1374119101 MPI Health Risk Pathogenic/Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1374129343 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1374130283 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS1374146241 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1374160355 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS1374167547 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS1374173552 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1374212380 TRIM37 Health Risk Pathogenic —
RS1374214589 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1374240053 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1374240720 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS1374244663 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS1374254106 OTOG Health Risk Likely pathogenic —
RS1374291383 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS1374291628 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1374292312 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Kabuki syndrome 2
RS1374299963 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1374316824 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1374322297 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1374323400 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS1374327029 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1374334296 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS1374351136 IDH3B Health Risk Likely pathogenic —
RS1374359136 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1374365071 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1374370833 STAG2 Health Risk Pathogenic Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome
RS1374378105 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS1374378636 SPTA1 Health Risk Likely pathogenic —
« Prev 1 ... 418 419 420 421 422 423 424 ... 4509 Next »

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

Get Started Free →