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
RS1554436799 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1554438053 CLCN1 Health Risk Likely pathogenic —
RS1554438432 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS1554438441 CLCN1 Health Risk Likely pathogenic Lumbar hyperlordosis, Hypoplasia of the maxilla
RS1554438471 CLCN1 Health Risk Likely pathogenic —
RS1554438574 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1554438588 RHEB Health Risk Likely pathogenic Hemimegalencephaly, Hemimegalencephaly
RS1554439189 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS1554439817 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1554440661 FOXP2 Health Risk Pathogenic —
RS1554440668 CNTNAP2 Health Risk Likely pathogenic —
RS1554440713 FOXP2 Health Risk Pathogenic/Likely pathogenic —
RS1554440887 SYNE1 Health Risk Pathogenic —
RS1554441663 FOXP2 Health Risk Likely pathogenic —
RS1554441982 TWIST1 Health Risk Likely pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS1554441987 TWIST1 Health Risk Likely pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS1554441989 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS1554441991 TWIST1 Health Risk Pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS1554441992 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS1554441993 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS1554441995 TWIST1 Health Risk Conflicting classifications of pathogenicity TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS1554442015 TWIST1 Health Risk Conflicting classifications of pathogenicity Saethre-Chotzen syndrome, Inborn genetic diseases
RS1554442016 TWIST1 Health Risk Pathogenic Sweeney-Cox syndrome, Sweeney-Cox syndrome
RS1554442019 TWIST1 Health Risk Likely pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS1554442021 TWIST1 Health Risk Conflicting classifications of pathogenicity Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS1554442082 TWIST1 Health Risk Pathogenic/Likely pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS1554448874 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS1554448924 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS1554449028 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS1554449047 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS1554449124 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS1554449136 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS1554451078 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1554451484 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS1554451504 CLN8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis 8
RS1554453517 RELN Health Risk Likely pathogenic —
RS1554455233 SYNE1 Health Risk Likely pathogenic —
RS1554460624 DYNC2I1 Health Risk Likely pathogenic Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly
RS1554461593 TUSC3 Health Risk Pathogenic Intellectual disability, autosomal recessive 7
RS1554464198 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS1554464495 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-related disorder
RS1554464807 AUTS2 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS1554466908 MSR1 Health Risk Pathogenic —
RS1554468335 SYNE1 Health Risk Likely pathogenic —
RS1554471681 MCPH1 Health Risk Pathogenic Microcephaly 1, primary
RS1554471992 SYNE1 Health Risk Likely pathogenic —
RS1554476282 SFTPC Health Risk Likely pathogenic Inborn genetic diseases, Surfactant metabolism dysfunction
RS1554476471 MCPH1 Health Risk Likely pathogenic —
RS1554477105 KMT2C Health Risk Pathogenic Kleefstra syndrome 2, KMT2C-related NDD
RS1554478948 DYNC2I1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS1554480487 AUTS2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554480537 AUTS2 Health Risk Pathogenic/Likely pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS1554481113 EZH2 Health Risk Likely pathogenic —
RS1554481395 AUTS2 Health Risk Pathogenic/Likely pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS1554481435 EZH2 Health Risk Conflicting classifications of pathogenicity Weaver syndrome, Inborn genetic diseases
RS1554481713 AUTS2 Health Risk Pathogenic —
RS1554481763 AUTS2 Health Risk Pathogenic —
RS1554486390 EZH2 Health Risk Likely pathogenic Medulloblastoma SHH activated and TP53 wild-type, Medulloblastoma SHH activated and TP53 wild-type
RS1554486894 TUSC3 Health Risk Pathogenic Intellectual disability, autosomal recessive 7
RS1554488565 AUTS2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554489785 KRIT1 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554490317 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554490549 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS1554491478 SYNE1 Health Risk Pathogenic —
RS1554491783 TEX15 Health Risk Pathogenic Spermatogenic failure 25, Spermatogenic failure 25
RS1554492164 TEX15 Health Risk Pathogenic Spermatogenic failure 25, Spermatogenic failure 25
RS1554493607 SHH Health Risk Pathogenic/Likely pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS1554493633 SHH Health Risk Pathogenic —
RS1554493722 SHH Health Risk Likely pathogenic —
RS1554493810 SHH Health Risk Pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS1554495331 SHH Health Risk Likely pathogenic Holoprosencephaly 3, Holoprosencephaly 3
RS1554496279 KMT2C Health Risk Likely pathogenic —
RS1554496609 MCPH1 Health Risk Likely pathogenic Microcephaly 1, primary
RS1554496813 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS1554497393 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS1554497505 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS1554497573 NEFL Health Risk Likely pathogenic Hereditary motor neuron disease, Charcot-Marie-Tooth disease type 2E
RS1554497641 NEFL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 2E
RS1554498312 GATA4 Health Risk Pathogenic Congenital heart disease, Congenital heart disease
RS1554499091 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1554499629 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1554499814 EZH2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554501612 KMT2C Health Risk Likely pathogenic —
RS1554502663 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS1554502668 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS1554502725 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS1554502732 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS1554502838 KRIT1 Health Risk Pathogenic —
RS1554502927 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554502986 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS1554503009 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554503011 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS1554503116 KRIT1 Health Risk Pathogenic —
RS1554503202 KRIT1 Health Risk Pathogenic —
RS1554503702 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554503705 KRIT1 Health Risk Pathogenic —
RS1554504484 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554504519 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554504656 RHOBTB2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 64
RS1554504663 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 64
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