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
RS1376931989 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1376937780 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS1376982287 TLE6 Health Risk Pathogenic Preimplantation embryonic lethality 1, Preimplantation embryonic lethality 1
RS1376989560 SLCO2A1 Health Risk Likely pathogenic Hypertrophic osteoarthropathy, primary
RS1376996089 RAG1 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS1377008496 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1377011929 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1377012763 EXOSC9 Health Risk Likely pathogenic Thymoma, Thymoma
RS1377017458 SYT1 Health Risk Pathogenic Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
RS1377020559 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1377038208 ITGA6 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 6
RS1377055875 ATP13A2 Health Risk Pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS1377078499 TFAP2B Health Risk Likely pathogenic Patent ductus arteriosus 2, Patent ductus arteriosus 2
RS1377090546 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS1377102705 MAN1B1 Health Risk Pathogenic Rafiq syndrome, Rafiq syndrome
RS1377137374 PRPH2 Health Risk Pathogenic —
RS1377166595 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1377177645 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1377179094 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1377200831 MTOR Health Risk Conflicting classifications of pathogenicity —
RS1377226312 LTBP4 Health Risk Pathogenic —
RS1377226524 SCN5A Health Risk Likely pathogenic —
RS1377252379 SNRNP200 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1377274434 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1377275293 CYBB Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS1377283211 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS1377309647 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1377315723 TRAPPC11 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS1377331975 CNGA3 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS1377332778 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1377352983 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1377354928 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1377392375 CFAP20 Health Risk Likely pathogenic Rod-cone dystrophy, Rod-cone dystrophy
RS1377398622 TRAPPC9 Health Risk Pathogenic Intellectual disability, autosomal recessive 13
RS1377412693 HBA1 Health Risk Pathogenic/Likely pathogenic alpha Thalassemia, Hemoglobin H disease
RS1377414968 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1377418826 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1377434894 USH2A Health Risk Pathogenic —
RS1377452635 NSUN2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 5
RS1377505488 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1377506801 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, CBL-related disorder
RS1377555853 CNGA3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Achromatopsia 2
RS1377574572 RAPSN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS1377594602 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1377618677 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1377620586 ITGB4 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS1377622831 POLR1A Health Risk Pathogenic Acrofacial dysostosis Cincinnati type, Acrofacial dysostosis Cincinnati type
RS1377633383 NTHL1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS1377640182 WWOX Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS1377644626 BMP4 Health Risk Conflicting classifications of pathogenicity Microphthalmia with brain and digit anomalies, Orofacial cleft 11
RS1377648342 JAG2 Health Risk Likely pathogenic Muscular dystrophy, limb-girdle
RS1377668924 RYR1 Health Risk Pathogenic/Likely pathogenic Central core myopathy, RYR1-related disorder
RS1377680993 CAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1377703440 MYH3 Health Risk Pathogenic —
RS1377703869 PIEZO2 Health Risk Likely pathogenic —
RS1377725272 LAMB2 Health Risk Pathogenic/Likely pathogenic Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS1377735119 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1377740859 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS1377745229 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS1377754508 NBAS Health Risk Pathogenic —
RS1377815840 GGCX Health Risk Pathogenic —
RS1377818460 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1377819809 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Fibrochondrogenesis 1
RS1377855703 GUSB Health Risk Likely pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1377893089 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS1377925264 SART3 Health Risk Likely pathogenic Intellectual disability, Neurodevelopmental defects and Developmental delay with 46
RS1377926237 GREB1L Health Risk Pathogenic Mayer-Rokitansky-Küster-Hauser syndrome type 2, Mayer-Rokitansky-Küster-Hauser syndrome type 2
RS1377926916 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS1377933433 SLC4A11 Health Risk Pathogenic/Likely pathogenic SLC4A11-related disorder, SLC4A11-related disorder
RS1377948705 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1377971286 TSEN54 Health Risk Pathogenic —
RS1377977559 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS1377982927 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS1377989582 CHD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1377993607 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1378007993 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1378008503 POLR3A Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS1378012462 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1378023866 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1378059855 GAMT Health Risk Pathogenic/Likely pathogenic Cerebral creatine deficiency syndrome, Cerebral creatine deficiency syndrome
RS1378121578 NR3C2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1, Pseudohyperaldosteronism type 2
RS1378138545 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Baller-Gerold syndrome
RS1378141167 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Sitosterolemia
RS1378153259 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS1378156947 CACNA2D2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1378160712 SDHC Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS1378178272 TRAPPC12 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1378196300 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1378197369 ACSF3 Health Risk Conflicting classifications of pathogenicity Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1378220202 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS1378258435 TYMP Health Risk Pathogenic —
RS1378307448 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1378325757 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1378338444 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis type 2, GM1 gangliosidosis type 3
RS1378348220 ORC1 Health Risk Pathogenic Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS1378400148 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS1378409559 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS1378420951 ESCO2 Health Risk Likely pathogenic —
RS1378426700 POC1B Health Risk Pathogenic —
RS1378433780 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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