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
RS771516972 CDC14A Health Risk Conflicting classifications of pathogenicity —
RS771517209 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS771517712 MTOR Health Risk Conflicting classifications of pathogenicity MTOR-related disorder, Inborn genetic diseases
RS771518021 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS771518151 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS771518917 DNAH9 Health Risk Pathogenic —
RS771519257 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS771519899 RIMS1 Health Risk Conflicting classifications of pathogenicity —
RS771520608 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS771521201 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Intellectual disability
RS771521427 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS771522982 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS771523115 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS771523641 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS771523995 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS771525633 LZTR1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS771525761 ITPA Health Risk Conflicting classifications of pathogenicity Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy
RS771525847 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Inborn genetic diseases
RS771527206 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS771527845 MACF1 Health Risk Conflicting classifications of pathogenicity Lissencephaly 9 with complex brainstem malformation, Inborn genetic diseases
RS771528741 SHANK3 Health Risk Pathogenic —
RS771529170 FGD4 Health Risk Likely pathogenic —
RS771529172 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS771529256 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS771529531 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS771529549 PRKN Health Risk Pathogenic/Likely pathogenic Autosomal recessive juvenile Parkinson disease 2, Lung cancer
RS771531523 CEP104 Health Risk Pathogenic Joubert syndrome 25, Joubert syndrome 25
RS771531650 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS771531777 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS771532474 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS771533907 CNTNAP2 Health Risk Pathogenic/Likely pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS771534291 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS771534699 MIA3 Health Risk Pathogenic ODONTOCHONDRODYSPLASIA WITH HEARING LOSS AND DIABETES, ODONTOCHONDRODYSPLASIA WITH HEARING LOSS AND DIABETES
RS771534964 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771535420 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related disorder, DDX41-related hematologic malignancy predisposition syndrome
RS771536750 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS771537277 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS771537352 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS771537551 POLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771538008 RECQL4 Health Risk Pathogenic/Likely pathogenic Baller-Gerold syndrome, Rapadilino syndrome
RS771538281 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS771538814 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, Rare disease with thoracic aortic aneurysm and aortic dissection
RS771540767 ALPL Health Risk Conflicting classifications of pathogenicity Infantile hypophosphatasia, Childhood hypophosphatasia
RS771541567 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS77154172 CCDC88C Health Risk Conflicting classifications of pathogenicity CCDC88C-related disorder, CCDC88C-related disorder
RS771542321 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MMUT-related disorder
RS771542690 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS771542770 ALPL Health Risk Pathogenic Hypophosphatasia, Hypophosphatasia
RS771543103 FLG Health Risk Conflicting classifications of pathogenicity Ichthyosis vulgaris, Ichthyosis vulgaris
RS771544217 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS771546256 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS771547188 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS771548650 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS771549673 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS771549676 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS771549876 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771550655 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS771551231 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS771551560 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Familial thoracic aortic aneurysm and aortic dissection, Malignant tumor of esophagus
RS771551765 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 6, Meckel-Gruber syndrome
RS771551785 CRX Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS771552404 CTNS Health Risk Conflicting classifications of pathogenicity Nephropathic cystinosis, Inborn genetic diseases
RS771552960 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS771553626 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS771553674 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS771554923 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS771554929 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS771555558 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS771555570 CDH23 Health Risk Pathogenic —
RS771556952 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS771557031 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ARID1B-related disorder
RS771557106 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS771557879 DCC Health Risk Pathogenic —
RS771558571 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS771558691 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS771558713 NSUN2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 5
RS771559117 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771560305 OTOF Health Risk Conflicting classifications of pathogenicity —
RS771560656 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS771560788 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS771561593 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS771561899 TRMT10A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771562210 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS771563083 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability
RS771563230 AGA Health Risk Pathogenic/Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS771563591 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS771565845 CDK5RAP2 Health Risk Pathogenic CDK5RAP2-related disorder, CDK5RAP2-related disorder
RS771568686 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS771568810 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS771569004 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS771569331 EPCAM Health Risk Conflicting classifications of pathogenicity Congenital diarrhea 5 with tufting enteropathy, Congenital diarrhea 5 with tufting enteropathy
RS771571938 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer
RS771572024 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS771573516 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS771573600 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS771575217 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS771575556 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771576624 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Essential hypertension
RS771576658 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS771577266 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
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