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
RS180858237 BSND Health Risk Conflicting classifications of pathogenicity Bartter disease type 4A, Bartter syndrome
RS1808585056 FLNC Health Risk Likely pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1808586167 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 3
RS1808615750 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS180861816 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS1808621822 FLNC Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS1808624700 SBF2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS180863872 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS1808663853 FLNC Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS1808678197 FLNC Health Risk Likely pathogenic Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS1808681247 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS1808685364 FLNC Health Risk Likely pathogenic Restrictive cardiomyopathy, Restrictive cardiomyopathy
RS180869784 GLB1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-B
RS180869804 TRPM1 Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS1808705345 MRPS28 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 47, Combined oxidative phosphorylation deficiency 47
RS1808708673 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS1808742803 FLNC Health Risk Likely pathogenic FLNC-associated cardiomyopathy, FLNC-associated cardiomyopathy
RS180874451 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS180875376 SLCO1B3 Health Risk Conflicting classifications of pathogenicity Rotor syndrome, SLCO1B3-related disorder
RS1808758208 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS1808761665 FLNC Health Risk Likely pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1808778979 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS1808781579 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS1808782267 ABCB4 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 3, Cholestasis
RS1808804404 GDAP1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS1808809268 FLNC Health Risk Pathogenic/Likely pathogenic Conduction disorder of the heart, Cardiovascular phenotype
RS180881714 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 11
RS1808822115 EZH2 Health Risk Pathogenic/Likely pathogenic Weaver syndrome, Weaver syndrome
RS1808826795 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS180882901 OFD1 Health Risk Pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS1808858148 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease axonal type 2K
RS1808862287 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS1808863345 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K
RS1808864196 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1808866340 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1808867656 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS180886846 MYH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1808869772 GDAP1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1808872865 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS1808872966 FLNC Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS1808874360 FLNC Health Risk Likely pathogenic Asymmetric septal hypertrophy, Hypertrophic cardiomyopathy 26
RS1808887627 FLNC Health Risk Pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1808888920 FLNC Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Primary familial dilated cardiomyopathy
RS180889150 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS180889778 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS180889966 STRA6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Matthew-Wood syndrome
RS180891474 RPS6KC1 Health Risk Conflicting classifications of pathogenicity —
RS1808918080 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS180892038 PIGV Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1808924231 FLNC Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS1808925531 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1808939202 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS180894698 GEMIN4 Health Risk Conflicting classifications of pathogenicity GEMIN4-related disorder, GEMIN4-related disorder
RS1808950153 PRKAG2 Health Risk Pathogenic Lethal congenital glycogen storage disease of heart, Lethal congenital glycogen storage disease of heart
RS1808965674 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS180897552 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1808984299 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS180898690 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Dilated cardiomyopathy 1L
RS180899069 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1809000474 CHD7 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 5 with or without anosmia, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1809007869 FLNC Health Risk Likely pathogenic —
RS1809027236 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS180903875 PRICKLE2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy
RS1809042353 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS180904654 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS1809050272 CHD7 Health Risk Pathogenic Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS1809054571 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1809058275 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1809060555 CHD7 Health Risk Pathogenic —
RS1809060881 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1809062554 EYA1 Health Risk Likely pathogenic —
RS1809062715 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1809063870 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1809069833 CHD7 Health Risk Pathogenic —
RS1809075967 CHD7 Health Risk Likely pathogenic —
RS180908546 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS1809085817 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS1809086992 FLNC Health Risk Likely pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1809097778 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS1809098380 FLNC Health Risk Pathogenic/Likely pathogenic Primary familial dilated cardiomyopathy, Hypertrophic cardiomyopathy 26
RS1809103569 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1809107219 MCPH1 Health Risk Pathogenic Autosomal recessive primary microcephaly, Autosomal recessive primary microcephaly
RS1809109008 FLNC Health Risk Pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS1809110247 FLNC Health Risk Likely pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1809110580 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1809112398 MCPH1 Health Risk Likely pathogenic Microcephaly 1, primary
RS1809149761 FLNC Health Risk Pathogenic/Likely pathogenic Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS1809161384 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1809169096 MSH5 Health Risk Pathogenic Azoospermia, Azoospermia
RS180917208 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, FREM1-related disorder
RS180918578 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS180920616 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS180922748 SCN9A Health Risk Conflicting classifications of pathogenicity Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS180925766 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS180925806 DNHD1 Health Risk Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS1809266780 EYA1 Health Risk Pathogenic Branchiootorenal syndrome 1, Branchiootorenal syndrome 1
RS180926981 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS180928221 MUSK Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS1809301019 ABCB4 Health Risk Likely pathogenic —
RS1809302126 ABCB4 Health Risk Conflicting classifications of pathogenicity Low phospholipid associated cholelithiasis, Cholestasis
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