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
RS1419297868 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS141929882 FGFR2 Health Risk Conflicting classifications of pathogenicity Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome
RS141929940 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS141930049 TYR Health Risk Conflicting classifications of pathogenicity TYR-related disorder, Oculocutaneous albinism
RS1419306566 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1419311230 CD3E Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency disease, Immunodeficiency 18
RS1419316294 SYNJ1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 53
RS1419316711 GIPC3 Health Risk Conflicting classifications of pathogenicity —
RS141932807 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1419333963 IBA57 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74
RS141933916 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141934037 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS141934594 CHKB Health Risk Conflicting classifications of pathogenicity Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS141934736 CNGB3 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Achromatopsia
RS141934748 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS141934766 SNAP29 Health Risk Conflicting classifications of pathogenicity SNAP29-related disorder, SNAP29-related disorder
RS141935493 SLC52A1 Health Risk Conflicting classifications of pathogenicity Ariboflavinosis, Vitamin B2 deficiency
RS141935559 FXN Health Risk Pathogenic Friedreich ataxia, Friedreich ataxia
RS141936187 MTOR Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Papillary renal cell carcinoma type 1
RS141936559 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS141936944 CRYM Health Risk Conflicting classifications of pathogenicity CRYM-related disorder, Autosomal dominant nonsyndromic hearing loss 40
RS141936971 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS1419374180 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1419374563 DIXDC1 Health Risk Likely pathogenic Obesity, Obesity
RS141938078 ETV6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS141939274 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS141939661 CCDC141 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 7 with or without anosmia, CCDC141-related disorder
RS141941157 AARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1419419172 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome
RS1419422047 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS141942249 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, Inborn genetic diseases
RS141943290 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Inborn genetic diseases
RS1419439468 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS141944086 ADAMTS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141944501 ITGB4 Health Risk Pathogenic —
RS141944551 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS141944722 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS141944878 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS141945092 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141945265 DNAAF11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS141947199 BLK Health Risk Conflicting classifications of pathogenicity BLK-related disorder, BLK-related disorder
RS1419473986 CDH23 Health Risk Pathogenic —
RS141947469 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS141947707 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS1419478766 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1419487180 TPP2 Health Risk Likely pathogenic —
RS141948792 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS141948836 H6PD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141949212 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Albinism
RS1419492897 AHI1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS141950826 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS1419508373 SEPSECS Health Risk Pathogenic —
RS141950964 CYP4V2 Health Risk Conflicting classifications of pathogenicity Bietti crystalline corneoretinal dystrophy, Corneal dystrophy
RS141951587 COL2A1 Health Risk Conflicting classifications of pathogenicity Achondrogenesis type II, Achondrogenesis type II
RS141952128 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome 1, ADAMTS10-related disorder
RS141952252 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS1419526899 DNHD1 Health Risk Pathogenic —
RS1419526946 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS141953041 MRPS16 Health Risk Conflicting classifications of pathogenicity —
RS141953092 TRIM32 Health Risk Conflicting classifications of pathogenicity Sarcotubular myopathy, Bardet-Biedl syndrome 11
RS141953294 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS141953425 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Carcinoma of colon
RS1419539530 DSCAM Health Risk Likely pathogenic Aganglionic megacolon, Aganglionic megacolon
RS1419541816 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1419548558 PAX3 Health Risk Pathogenic/Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 3
RS1419550439 TANC2 Health Risk Pathogenic/Likely pathogenic INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES, Autism spectrum disorder
RS141955563 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1419560997 IL10RA Health Risk Pathogenic/Likely pathogenic Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS141956294 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS141956714 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1419567670 RNF216 Health Risk Pathogenic Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
RS141956992 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS141957107 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS141957829 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS141958775 DNAH9 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS141958901 GNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-D
RS141959242 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS141959251 AHNAK Health Risk Conflicting classifications of pathogenicity —
RS141959252 NHSL2 Health Risk Conflicting classifications of pathogenicity —
RS1419604407 TBCD Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1419606204 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS141961156 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS141961299 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1419613966 SLC26A2 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 4, Achondrogenesis
RS141961809 ODAD1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS141961878 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS141962118 GJB2 Health Risk Conflicting classifications of pathogenicity Ichthyosis, hystrix-like
RS141963371 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS1419635604 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS141965360 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, SUDDEN INFANT DEATH SYNDROME
RS141965374 EPAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141965401 TRIM32 Health Risk Conflicting classifications of pathogenicity Sarcotubular myopathy, Bardet-Biedl syndrome 11
RS141965615 NCAPD3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS141965690 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS141966811 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS141967170 CTU2 Health Risk Conflicting classifications of pathogenicity Microcephaly, facial dysmorphism
RS141967840 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism, Oculocutaneous albinism type 1A
RS141967896 GUCY2D Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS1419680561 SKIC2 Health Risk Likely pathogenic Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS1419688179 KDM6B Health Risk Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
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