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
RS1983378176 HCN2 Health Risk Conflicting classifications of pathogenicity HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy
RS1983427704 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1983442077 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1983540456 MYT1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1983651325 IFT52 Health Risk Pathogenic Short-rib thoracic dysplasia 16 with or without polydactyly, Short-rib thoracic dysplasia 16 with or without polydactyly
RS1983743862 SNORD118 Health Risk Pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS1983820983 SNORD118 Health Risk Pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS1983849974 NAPB Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy-107, Developmental and epileptic encephalopathy
RS1983951845 MYT1 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1984074001 IFT52 Health Risk Pathogenic Short-rib thoracic dysplasia 16 with or without polydactyly, Short-rib thoracic dysplasia 16 with or without polydactyly
RS1984233764 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS1984239884 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS1984242860 KCNB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 26
RS1984243311 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS1984248125 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS1984248540 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS1984249721 KCNB1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 26
RS1984250089 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS1984250919 KCNB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 26
RS1984251749 KCNB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 26
RS1984252016 KCNB1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Developmental and epileptic encephalopathy
RS1984252463 KCNB1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1984257387 KCNB1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 26
RS1984257835 KCNB1 Health Risk Pathogenic —
RS1984259606 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS1984260160 KCNB1 Health Risk Likely pathogenic —
RS1984261678 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS1984262011 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS1984264748 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS1984274983 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS1984276555 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS1984959750 NAPB Health Risk Pathogenic Developmental and epileptic encephalopathy-107, Developmental and epileptic encephalopathy-107
RS1984968688 PAX1 Health Risk Conflicting classifications of pathogenicity Otofaciocervical syndrome 2, Otofaciocervical syndrome 2
RS1985007962 PAX1 Health Risk Pathogenic Otofaciocervical syndrome 2, Otofaciocervical syndrome 2
RS1985008715 PAX1 Health Risk Pathogenic Otofaciocervical syndrome 2, Otofaciocervical syndrome 2
RS1985597191 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS1985903483 ETFB Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1986478157 NDUFAF5 Health Risk Pathogenic —
RS1986549885 BMP2 Health Risk Likely pathogenic —
RS1986662202 SLC52A3 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1
RS1986794200 DSC2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1986844120 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS1986920257 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1986940321 CTSA Health Risk Likely pathogenic —
RS1986946690 CTC1 Health Risk Pathogenic —
RS1986947659 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS1986950096 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS1986951516 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS1986952876 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS1986957498 DSC2 Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS1986978766 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS1987030082 CTSA Health Risk Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS1987105095 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1987148852 CTSA Health Risk Likely pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS1987161799 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1987170019 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1987206904 CTC1 Health Risk Pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
RS1987208048 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1987264133 THRA Health Risk Likely pathogenic Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6
RS1987287426 IFNAR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 45, Immunodeficiency 45
RS1987287870 ATP5PO Health Risk Pathogenic/Likely pathogenic Leigh syndrome, ATP5PO-related disorder
RS1987317835 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS1987321255 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Inborn genetic diseases
RS1987333906 THRA Health Risk Likely pathogenic —
RS1987414584 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS1987454499 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS1987518239 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS1987524919 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS1987618823 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Familial isolated arrhythmogenic right ventricular dysplasia
RS1987620757 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS1987624232 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular cardiomyopathy
RS1987673824 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Familial isolated arrhythmogenic right ventricular dysplasia
RS1987674659 CTC1 Health Risk Likely pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1987691332 CTC1 Health Risk Likely pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1987930048 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1987974114 DSC2 Health Risk Likely pathogenic Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS1987974228 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1988672290 ITCH Health Risk Likely pathogenic Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
RS1988702062 ITCH Health Risk Pathogenic Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
RS1989014468 IL10RB Health Risk Pathogenic Inflammatory bowel disease 25, Inflammatory bowel disease 25
RS1989166718 PLCB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS1989175848 IL10RB Health Risk Likely pathogenic Inflammatory bowel disease 25, Inflammatory bowel disease 25
RS1989179205 IL10RB Health Risk Likely pathogenic Inflammatory bowel disease 25, Inflammatory bowel disease 25
RS1990238054 SAMHD1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Melanoma
RS1991037713 COL9A3 Health Risk Likely pathogenic Epiphyseal dysplasia, multiple
RS199422114 TBXAS1 Health Risk Pathogenic Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
RS199422116 TBXAS1 Health Risk Pathogenic Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
RS199422117 TBXAS1 Health Risk Conflicting classifications of pathogenicity Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
RS199422125 MCPH1 Health Risk Pathogenic/Likely pathogenic Microcephaly 1, primary
RS199422126 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS199422131 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422134 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS199422135 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422137 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422138 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422139 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422141 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422144 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS199422146 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS199422147 ASPM Health Risk Pathogenic Microcephaly 5, primary
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