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
RS1057517634 POLE Health Risk Likely pathogenic Colorectal cancer, susceptibility to
RS1057517636 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1057517637 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1057517641 RAD51C Health Risk Likely pathogenic Fanconi anemia complementation group O, Breast-ovarian cancer
RS1057517643 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1057517647 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1057517648 BRIP1 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS1057517661 GAL Health Risk Pathogenic Familial temporal lobe epilepsy 8, Familial temporal lobe epilepsy 8
RS1057517662 SPARC Health Risk Pathogenic Osteogenesis imperfecta type 17, Osteogenesis imperfecta type 17
RS1057517663 SPARC Health Risk Pathogenic Osteogenesis imperfecta type 17, Osteogenesis imperfecta type 17
RS1057517664 SLC1A4 Health Risk Pathogenic Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
RS1057517666 SLC18A3 Health Risk Likely pathogenic Congenital myasthenic syndrome 21, Congenital myasthenic syndrome 21
RS1057517667 ZIC1 Health Risk Pathogenic Structural brain anomalies with impaired intellectual development and craniosynostosis, Structural brain anomalies with impaired intellectual development and craniosynostosis
RS1057517668 ZIC1 Health Risk Pathogenic Structural brain anomalies with impaired intellectual development and craniosynostosis, Structural brain anomalies with impaired intellectual development and craniosynostosis
RS1057517669 ZIC1 Health Risk Pathogenic Structural brain anomalies with impaired intellectual development and craniosynostosis, Structural brain anomalies with impaired intellectual development and craniosynostosis
RS1057517670 ZIC1 Health Risk Pathogenic Craniosynostosis 6, Craniosynostosis 6
RS1057517671 GPR68 Health Risk Pathogenic Amelogenesis imperfecta, hypomaturation type
RS1057517672 GPR68 Health Risk Pathogenic Amelogenesis imperfecta, hypomaturation type
RS1057517673 KIF5A Health Risk Pathogenic Myoclonus, intractable
RS1057517674 MAD2L2 Health Risk Pathogenic Fanconi anemia complementation group V, Fanconi anemia complementation group V
RS1057517675 RNASEH1 Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
RS1057517676 EDC3 Health Risk Pathogenic Intellectual disability, autosomal recessive 50
RS1057517677 UNC13A Health Risk Conflicting classifications of pathogenicity UNC13A-related disorder, UNC13A-related disorder
RS1057517678 PPA2 Health Risk Pathogenic Sudden cardiac failure, infantile
RS1057517679 PPA2 Health Risk Pathogenic Sudden cardiac failure, infantile
RS1057517680 PPA2 Health Risk Pathogenic Sudden cardiac failure, infantile
RS1057517681 PADI6 Health Risk Pathogenic Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
RS1057517682 PADI6 Health Risk Pathogenic Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
RS1057517683 PADI6 Health Risk Pathogenic Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
RS1057517684 PADI6 Health Risk Likely pathogenic Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
RS1057517685 TRMT5 Health Risk Pathogenic Combined oxidative phosphorylation defect type 26, Combined oxidative phosphorylation defect type 26
RS1057517686 ATAD3A Health Risk Pathogenic/Likely pathogenic Harel-Yoon syndrome, Harel-Yoon syndrome
RS1057517687 ATAD3A Health Risk Conflicting classifications of pathogenicity Harel-Yoon syndrome, Pontocerebellar hypoplasia
RS1057517688 MFSD2A Health Risk Pathogenic Microcephaly 15, primary
RS1057517689 MFSD2A Health Risk Conflicting classifications of pathogenicity Microcephaly 15, primary
RS1057517691 CEP78 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss 1
RS1057517692 CEP78 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 1, Retinal dystrophy
RS1057517693 CEP78 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy and hearing loss 1
RS1057517694 CEP78 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 1, Cone-rod dystrophy
RS1057517695 CEP78 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 1, Sensorineural hearing loss disorder
RS1057517696 TMTC3 Health Risk Pathogenic Lissencephaly 8, Lissencephaly 8
RS1057517697 TMTC3 Health Risk Pathogenic Lissencephaly 8, Lissencephaly 8
RS1057517698 TMTC3 Health Risk Pathogenic Lissencephaly 8, Lissencephaly 8
RS1057517699 TECRL Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 3, Catecholaminergic polymorphic ventricular tachycardia 3
RS1057517700 ABCA4 Health Risk Pathogenic Retinitis pigmentosa 19, Retinal dystrophy
RS1057517701 ABCA4 Health Risk Pathogenic —
RS1057517704 ARID1B Health Risk Pathogenic See cases, See cases
RS1057517705 ARX Health Risk Pathogenic —
RS1057517706 ATP2C1 Health Risk Pathogenic Familial benign pemphigus, Familial benign pemphigus
RS1057517707 ATRX Health Risk Pathogenic/Likely pathogenic Intellectual disability-hypotonic facies syndrome, X-linked
RS1057517708 AUTS2 Health Risk Pathogenic Intellectual disability, Autism spectrum disorder due to AUTS2 deficiency
RS1057517709 BTK Health Risk Pathogenic —
RS1057517710 BTK Health Risk Pathogenic —
RS1057517711 CACNA1C Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 1, Long QT syndrome
RS1057517712 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1057517713 CHD7 Health Risk Pathogenic —
RS1057517714 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS1057517715 CHM Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1057517716 CHM Health Risk Pathogenic —
RS1057517717 CHM Health Risk Pathogenic —
RS1057517718 CLCN7 Health Risk Pathogenic Hypopigmentation, organomegaly
RS1057517719 COL4A1 Health Risk Conflicting classifications of pathogenicity —
RS1057517720 COL7A1 Health Risk Pathogenic —
RS1057517721 COL7A1 Health Risk Pathogenic Epidermolysis bullosa, Epidermolysis bullosa
RS1057517722 COL7A1 Health Risk Pathogenic Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS1057517723 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS1057517724 COL7A1 Health Risk Conflicting classifications of pathogenicity Recessive dystrophic epidermolysis bullosa, COL7A1-related disorder
RS1057517725 COL7A1 Health Risk Pathogenic 7 conditions, 7 conditions
RS1057517726 COL7A1 Health Risk Pathogenic —
RS1057517729 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS1057517730 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1057517731 EDA Health Risk Pathogenic/Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1057517732 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Multiple congenital anomalies
RS1057517733 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, FBP1-related disorder
RS1057517734 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, FH-related disorder
RS1057517735 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057517736 FOXP3 Health Risk Pathogenic —
RS1057517738 GLB1 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS1057517739 GPC3 Health Risk Pathogenic —
RS1057517741 ADGRV1 Health Risk Pathogenic —
RS1057517742 KCNH2 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS1057517743 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome 2
RS1057517744 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS1057517745 HNF4A Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1057517746 IKBKG Health Risk Pathogenic —
RS1057517747 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1057517749 INPP5E Health Risk Likely pathogenic —
RS1057517752 KRIT1 Health Risk Pathogenic —
RS1057517753 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Hereditary cavernous hemangioma of brain
RS1057517754 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1057517756 LAMA1 Health Risk Likely pathogenic —
RS1057517758 MAP3K7 Health Risk Likely pathogenic —
RS1057517759 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS1057517760 MEN1 Health Risk Likely pathogenic —
RS1057517761 MPL Health Risk Pathogenic/Likely pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS1057517762 MSH2 Health Risk Pathogenic —
RS1057517763 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1057517764 MSH6 Health Risk Pathogenic Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS1057517765 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1057517766 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
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