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
RS2154550229 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2154551556 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2154551873 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2154554705 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2154555258 BRCA1 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2154562860 CACNA1C Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2154562876 CACNA1C Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Timothy syndrome
RS2154562881 CACNA1C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, language delay
RS2154565293 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2154565302 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2154565438 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2154571835 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome 8, Long QT syndrome 8
RS2154576469 BRCA1 Health Risk Pathogenic Malignant tumor of breast, Breast-ovarian cancer
RS2154576881 BRCA1 Health Risk Pathogenic Malignant tumor of breast, Hereditary cancer-predisposing syndrome
RS2154577341 CACNA1C Health Risk Likely pathogenic —
RS2154577345 CACNA1C Health Risk Likely pathogenic Seizure, Seizure
RS2154577568 CACNA1C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, language delay
RS2154578048 BRCA1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2154580237 BRCA1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2154580433 PCDHGC4 Health Risk Pathogenic Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies
RS2154580601 PCDHGC4 Health Risk Pathogenic Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies
RS2154580803 PCDHGC4 Health Risk Likely pathogenic Neurodevelopmental disorder with poor growth and skeletal anomalies, Neurodevelopmental disorder with poor growth and skeletal anomalies
RS2154593437 CACNA1C Health Risk Pathogenic Timothy syndrome, Timothy syndrome
RS2154596284 DIAPH1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS2154596304 DIAPH1 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS2154596416 DIAPH1 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS2154596448 DIAPH1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS2154596461 DIAPH1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS2154596613 DIAPH1 Health Risk Likely pathogenic Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
RS2154597562 DIAPH1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS2165241 LOXL1 Health Risk risk factor Exfoliation syndrome, susceptibility to
RS2205818 HAO1 Health Risk association Nephrolithiasis, calcium oxalate
RS2214326 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2219594 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2227434 FGB Health Risk Conflicting classifications of pathogenicity Congenital afibrinogenemia, Congenital afibrinogenemia
RS2227606 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, SERPINC1-related disorder
RS2227624 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Thromboembolism
RS2227863 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS2227871 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS2227872 BIVM-ERCC5;ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS2227885 GJA1 Health Risk Conflicting classifications of pathogenicity Hypoplastic left heart syndrome 1, Atrioventricular septal defect and common atrioventricular junction
RS2227922 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2227943 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2227944 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BRCA2-related cancer predisposition
RS2227945 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2227954 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS2227956 HSPA1L Health Risk association Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease
RS2228004 XPC Health Risk Pathogenic —
RS2228106 TAP1 Health Risk Conflicting classifications of pathogenicity MHC class I deficiency, TAP1-related disorder
RS2228152 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS2228159 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease
RS2228207 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2228208 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2228239 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS2228271 EDNRB Health Risk Conflicting classifications of pathogenicity —
RS2228499 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS2228527 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2228570 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Periodontitis
RS2228660 DARS1 Health Risk Conflicting classifications of pathogenicity DARS1-related disorder, DARS1-related disorder
RS2228671 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2229000 KCNA1 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 1, Episodic ataxia type 1
RS2229008 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder
RS2229010 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS2229013 ANOS1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS2229019 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2229021 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2229022 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2229061 MSH2 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Hereditary nonpolyposis colorectal neoplasms
RS2229073 CBL Health Risk Conflicting classifications of pathogenicity CBL-related disorder, RASopathy
RS2229141 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Malignant hyperthermia
RS2229149 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS2229152 ACY1 Health Risk Conflicting classifications of pathogenicity Aminoacylase 1 deficiency, ACY1-related disorder
RS2229178 CA4 Health Risk Conflicting classifications of pathogenicity —
RS2229194 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
RS2229222 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS2229224 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS2229299 GTF2E2 Health Risk Conflicting classifications of pathogenicity GTF2E2-related disorder, GTF2E2-related disorder
RS2229311 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, IVD-related disorder
RS2229324 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2229331 HRG Health Risk Conflicting classifications of pathogenicity HRG-related disorder, HRG-related disorder
RS2229413 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS2229483 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome type 1, Schwartz-Jampel syndrome type 1
RS2229487 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS2229490 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS2229820 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, 7 conditions
RS2229843 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Premature ovarian failure
RS2229860 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2229867 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS2229915 STX3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2229989 SOX9 Health Risk Conflicting classifications of pathogenicity Camptomelic dysplasia, Inborn genetic diseases
RS2229992 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2229996 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian cancer
RS2230029 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 3, Cholestasis
RS2230096 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS2230110 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS2230180 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS2230210 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Complement component 3 deficiency
RS2230234 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS2230288 GBA1 Health Risk Conflicting classifications of pathogenicity; risk factor Parkinsonian disorder, Rigidity
RS2230308 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
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