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
RS2150371841 RUNX2 Health Risk Likely pathogenic —
RS2150371856 RUNX2 Health Risk Pathogenic —
RS2150371895 RUNX2 Health Risk Likely pathogenic —
RS2150371897 RUNX2 Health Risk Pathogenic —
RS2150371905 RUNX2 Health Risk Pathogenic/Likely pathogenic —
RS2150371921 RUNX2 Health Risk Likely pathogenic —
RS2150375968 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2150387447 DEF6 Health Risk Pathogenic Immunodeficiency 87 and autoimmunity, Immunodeficiency 87 and autoimmunity
RS2150388709 ADGRV1 Health Risk Pathogenic —
RS2150388801 DEF6 Health Risk Pathogenic Immunodeficiency 87 and autoimmunity, Immunodeficiency 87 and autoimmunity
RS2150388869 ADGRV1 Health Risk Pathogenic Idiopathic generalized epilepsy, Idiopathic generalized epilepsy
RS2150391522 KCNQ5 Health Risk Conflicting classifications of pathogenicity —
RS2150391860 KCNQ5 Health Risk Pathogenic Intellectual disability, autosomal dominant 46
RS2150398853 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2150398890 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2150399547 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2150399759 CPLANE1 Health Risk Pathogenic —
RS2150400998 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2150407470 CPLANE1 Health Risk Pathogenic —
RS2150407530 RUNX2 Health Risk Likely pathogenic —
RS2150407600 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS2150410774 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2150413999 PKHD1 Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2150414452 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2150415240 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2150416702 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2150417202 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2150417724 PKHD1 Health Risk Pathogenic Enlarged kidney, Hyperechogenic kidneys
RS2150418842 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2150418852 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2150421181 RUNX2 Health Risk Likely pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS2150421206 RUNX2 Health Risk Pathogenic —
RS2150421218 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS2150424894 EYS Health Risk Pathogenic —
RS2150424909 EYS Health Risk Pathogenic —
RS2150428777 LAMB1 Health Risk Likely pathogenic Cobblestone lissencephaly without muscular or ocular involvement, Cobblestone lissencephaly without muscular or ocular involvement
RS2150429989 LAMB1 Health Risk Pathogenic Cobblestone lissencephaly without muscular or ocular involvement, Cobblestone lissencephaly without muscular or ocular involvement
RS2150435584 CPLANE1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS2150448548 CPLANE1 Health Risk Pathogenic —
RS2150452051 RUNX2 Health Risk Pathogenic —
RS2150452063 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS2150453692 RUNX2 Health Risk Likely pathogenic —
RS2150453696 RUNX2 Health Risk Likely pathogenic —
RS2150453876 RUNX2 Health Risk Pathogenic —
RS2150454165 RUNX2 Health Risk Pathogenic —
RS2150457602 KCNQ5 Health Risk Conflicting classifications of pathogenicity —
RS2150463984 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS2150463985 EYS Health Risk Likely pathogenic —
RS2150466350 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2150466512 EYS Health Risk Pathogenic —
RS2150474860 COL4A4 Health Risk Likely pathogenic Benign familial hematuria, Hematuria
RS2150475193 COL4A4 Health Risk Pathogenic —
RS2150475372 COL4A4 Health Risk Conflicting classifications of pathogenicity Hematuria, benign familial
RS2150476732 COL4A4 Health Risk Pathogenic —
RS2150476860 COL4A4 Health Risk Likely pathogenic —
RS2150476941 COL4A4 Health Risk Pathogenic/Likely pathogenic —
RS2150477599 COL4A4 Health Risk Likely pathogenic Benign familial hematuria, Benign familial hematuria
RS2150505385 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Benign familial hematuria
RS2150505661 COL4A4 Health Risk Pathogenic —
RS2150506036 COL4A4 Health Risk Likely pathogenic Benign familial hematuria, Benign familial hematuria
RS2150511876 AASS Health Risk Pathogenic Hyperlysinemia, Hyperlysinemia
RS2150512605 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150515547 CDK13 Health Risk Likely pathogenic Congenital heart defects, dysmorphic facial features
RS2150517037 CDK13 Health Risk Likely pathogenic Congenital heart defects, dysmorphic facial features
RS2150517060 CDK13 Health Risk Pathogenic/Likely pathogenic Congenital heart defects, dysmorphic facial features
RS2150517916 CPLANE1 Health Risk Pathogenic —
RS2150520528 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2150521592 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, FGFR1-related disorder
RS2150521749 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150522213 COL11A2 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS2150522747 COL11A2 Health Risk Likely pathogenic —
RS2150523233 COL4A4 Health Risk Pathogenic —
RS2150524268 FGFR1 Health Risk Pathogenic —
RS2150524851 COL11A2 Health Risk Pathogenic —
RS2150526766 CDK13 Health Risk Likely pathogenic Congenital heart defects, dysmorphic facial features
RS2150526768 CDK13 Health Risk Conflicting classifications of pathogenicity Congenital heart defects, dysmorphic facial features
RS2150526779 CDK13 Health Risk Likely pathogenic —
RS2150527930 KCNQ5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 46
RS2150532832 COL11A2 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 13, Autosomal dominant nonsyndromic hearing loss 13
RS2150533516 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150534777 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS2150536000 CDK13 Health Risk Likely pathogenic Congenital heart defects, dysmorphic facial features
RS2150536009 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2150537283 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150537863 FGFR1 Health Risk Likely pathogenic Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150544713 COL11A2 Health Risk Likely pathogenic —
RS2150546942 COL11A2 Health Risk Likely pathogenic —
RS2150548107 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS2150548120 COL11A2 Health Risk Likely pathogenic Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS2150548391 FGFR1 Health Risk Pathogenic Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150548621 VARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS2150548677 FGFR1 Health Risk Likely pathogenic Hartsfield-Bixler-Demyer syndrome, Hartsfield-Bixler-Demyer syndrome
RS2150550526 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150551158 COL11A2 Health Risk Pathogenic Fibrochondrogenesis 2, Fibrochondrogenesis 2
RS2150552237 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2150554560 TCOF1 Health Risk Pathogenic —
RS2150555528 COL11A2 Health Risk Pathogenic/Likely pathogenic Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS2150555861 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2150556374 ANK1 Health Risk Likely pathogenic —
RS2150556792 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
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