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
RS1040729718 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1040776353 MYO15A Health Risk Pathogenic —
RS1040811473 DLD Health Risk Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1040878226 TRIP4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1040881767 AUH Health Risk Likely pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS1040988213 SLC40A1 Health Risk Likely pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS1040995163 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1041035741 MAP2K2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS1041036020 C7 Health Risk Likely pathogenic —
RS1041054817 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1041055773 MYL3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1041071543 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1041076405 GALNT3 Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS1041081083 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS1041083656 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS1041108422 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS1041137098 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1041156693 CEP135 Health Risk Likely pathogenic —
RS1041161328 CERS1 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 8, Progressive myoclonic epilepsy type 8
RS1041175828 POLR3A Health Risk Likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome, Wiedemann-Rautenstrauch-like progeroid syndrome
RS1041197781 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS1041204916 GLB1 Health Risk Pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3
RS1041231423 ATP13A2 Health Risk Likely pathogenic —
RS1041267828 AP4B1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1041284849 XPC Health Risk Pathogenic —
RS1041287605 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1041327076 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1041333479 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1041344233 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1041380012 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Intellectual disability
RS1041389207 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1041431561 NSUN2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 5
RS1041438637 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1041467895 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1041469078 AUTS2 Health Risk Likely pathogenic —
RS1041477988 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1041494793 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS1041531529 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1041610302 C9 Health Risk Pathogenic —
RS1041641264 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1041643602 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS10416590 ODAD1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1041691170 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
RS1041725339 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1041798789 PRSS56 Health Risk Pathogenic Isolated microphthalmia 6, Isolated microphthalmia 6
RS1041809852 SDHA Health Risk Pathogenic/Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS10418277 KIR3DL1;NLRP7 Health Risk Conflicting classifications of pathogenicity Hydatidiform mole, recurrent
RS1041910675 C9 Health Risk Pathogenic —
RS1041924436 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1041937206 PIK3R2 Health Risk Conflicting classifications of pathogenicity Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Inborn genetic diseases
RS1041960684 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis
RS1041981 LTA Health Risk Benign; risk factor Myocardial infarction, susceptibility to
RS1041988929 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1042003977 CNGB3 Health Risk Pathogenic —
RS1042036647 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS1042054004 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1042063281 TRAPPC9 Health Risk Likely pathogenic —
RS1042066401 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS1042085577 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases
RS1042129854 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1042140 HLA-DPB1 Health Risk risk factor Beryllium disease, chronic
RS1042166926 UBR1 Health Risk Pathogenic —
RS1042196921 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1042198717 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1042247087 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS1042250 IMPDH1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 11, Retinitis pigmentosa
RS1042270 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS1042295993 RORC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
RS1042297449 SOX11 Health Risk Conflicting classifications of pathogenicity —
RS1042339 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS1042348 THPO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, THPO-related disorder
RS1042357480 CLCN4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 49
RS1042358908 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS1042391377 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1042412076 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1042469070 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS1042485 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3
RS1042514269 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1042522 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS10425452 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1042602 TYR Health Risk Conflicting classifications of pathogenicity SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS1042605624 SIAE Health Risk Conflicting classifications of pathogenicity —
RS1042609342 PYGL Health Risk Pathogenic Glycogen storage disease, type VI
RS1042617748 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1042630361 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Long QT syndrome
RS1042634748 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS1042640142 DCDC2 Health Risk Pathogenic Isolated neonatal sclerosing cholangitis, Isolated neonatal sclerosing cholangitis
RS1042644306 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1042667385 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1042695 BLK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11
RS1042718707 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS1042726781 CEP78 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1042754408 RINT1 Health Risk Likely pathogenic —
RS1042759526 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS1042786545 NBAS Health Risk Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS1042807324 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1042819 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS1042821 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1042821596 ZDHHC15 Health Risk Likely pathogenic Spastic diplegia, Spastic diplegia
RS1042826452 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypobetalipoproteinemia, Hypercholesterolemia
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