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
RS1849069405 ECHS1 Health Risk Pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1849075301 COL27A1 Health Risk Pathogenic —
RS184908312 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1849088219 COL27A1 Health Risk Pathogenic/Likely pathogenic Steel syndrome, Steel syndrome
RS184910011 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS184910238 TYRP1 Health Risk Conflicting classifications of pathogenicity —
RS184912682 ACSF3 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia, ACSF3-related disorder
RS1849155569 COL27A1 Health Risk Pathogenic —
RS184917682 MTNR1B Health Risk risk factor Diabetes mellitus type 2, susceptibility to
RS184921605 VWF Health Risk Conflicting classifications of pathogenicity VWF-related disorder, VWF-related disorder
RS184922462 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1849228141 GFI1B Health Risk Pathogenic Abnormal bleeding, Thrombocytopenia
RS1849231544 KCNC1 Health Risk Likely pathogenic —
RS1849236683 KCNC1 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS1849236698 SOX6 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS184923756 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1849239700 SOX6 Health Risk Likely pathogenic —
RS184924520 CDC45 Health Risk Conflicting classifications of pathogenicity —
RS1849262183 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS1849295075 IKZF5 Health Risk Pathogenic/Likely pathogenic Thrombocytopenia 7, Thrombocytopenia 7
RS184929979 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Inborn genetic diseases
RS184932311 PRKAG2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern
RS184937795 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS184939069 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS1849496525 PLEKHA7 Health Risk Likely pathogenic Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
RS184950120 MKRN3 Health Risk Conflicting classifications of pathogenicity —
RS184951305 KCNQ5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 46
RS184951836 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS184953805 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1
RS184956155 FOXN1 Health Risk Conflicting classifications of pathogenicity T-cell immunodeficiency, congenital alopecia
RS1849592470 DENND5A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 49
RS184961157 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS184965786 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS184966970 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS184969640 ITPR1 Health Risk Conflicting classifications of pathogenicity ITPR1-related disorder, ITPR1-related disorder
RS1849710760 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS184974475 ZFP57 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS1849911056 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS184994408 SLC27A5 Health Risk Conflicting classifications of pathogenicity SLC27A5-related disorder, SLC27A5-related disorder
RS1849966157 KCNQ1 Health Risk Pathogenic Cardiac arrhythmia, Cardiac arrhythmia
RS185002960 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS185005213 MNS1 Health Risk Pathogenic/Likely pathogenic Heterotaxy, visceral
RS1850117876 EBF3 Health Risk Pathogenic —
RS185011953 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS185012573 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS185014205 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1850169561 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS185021599 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS185022156 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS185025731 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS185027365 SLC24A1 Health Risk Conflicting classifications of pathogenicity —
RS185028612 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Hereditary pancreatitis
RS1850289942 FGFR2 Health Risk Pathogenic/Likely pathogenic FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS1850299732 FGFR2 Health Risk Likely pathogenic Crouzon syndrome, Crouzon syndrome
RS185031403 ELP4 Health Risk Conflicting classifications of pathogenicity —
RS1850314485 FGFR2 Health Risk Likely pathogenic Ectrodactyly, Ectrodactyly
RS185031797 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS185034915 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1850369146 ACADSB Health Risk Likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS1850384410 USH1C Health Risk Pathogenic —
RS185040406 ABCC8 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Hyperinsulinemic hypoglycemia
RS185041864 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1850476947 COPB1 Health Risk Pathogenic Severe intellectual disability, Immunodeficiency
RS1850488424 MMP21 Health Risk Pathogenic Heterotaxy, visceral
RS1850502742 CSRP3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1M
RS1850523074 CSRP3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
RS1850524848 CSRP3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1M
RS185052980 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS1850531575 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS185057307 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS185057557 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, Inborn genetic diseases
RS1850580975 ERCC6 Health Risk Pathogenic —
RS185060213 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, See cases
RS185061452 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1
RS1850628800 CSRP3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy 12
RS1850628942 EBF3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1850629434 EBF3 Health Risk Conflicting classifications of pathogenicity —
RS1850655600 ACADSB Health Risk Likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS1850678559 USH1C Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2, Hearing impairment
RS1850695885 COPB1 Health Risk Pathogenic/Likely pathogenic Severe intellectual disability, Cataract
RS1850697098 USH1C Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS185071408 NR5A1 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS1850715505 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS185072004 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS1850723875 UROS Health Risk Pathogenic —
RS1850741468 USH1C Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Autosomal recessive nonsyndromic hearing loss 18A
RS1850741898 USH1C Health Risk Pathogenic —
RS1850747928 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850750513 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850753467 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850754584 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850757159 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850759141 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850762108 ERCC6 Health Risk Pathogenic —
RS1850765501 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
RS1850766086 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850769065 ERCC6 Health Risk Likely pathogenic —
RS1850769140 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850770605 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1850791903 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
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