SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886039726 COL1A1 Health Risk Pathogenic/Likely pathogenic —
RS886039727 CLN6 Health Risk Pathogenic —
RS886039728 PCDH19 Health Risk Pathogenic —
RS886039729 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS886039730 GCSH Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Multiple mitochondrial dysfunctions syndrome 7
RS886039731 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary breast ovarian cancer syndrome
RS886039732 SYNJ1 Health Risk Pathogenic —
RS886039733 KANSL1 Health Risk Pathogenic —
RS886039734 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, Inborn genetic diseases
RS886039735 TSC1 Health Risk Pathogenic —
RS886039736 TSC2 Health Risk Pathogenic —
RS886039737 SLC2A1 Health Risk Pathogenic —
RS886039738 PALB2 Health Risk Likely pathogenic —
RS886039739 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS886039740 SATB2 Health Risk Pathogenic —
RS886039741 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886039742 KAT6B Health Risk Pathogenic —
RS886039743 COL11A1 Health Risk Pathogenic —
RS886039744 EXT2 Health Risk Pathogenic Exostoses, multiple
RS886039745 PHEX Health Risk Pathogenic —
RS886039746 PTF1A Health Risk Pathogenic Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
RS886039747 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS886039748 SRD5A2 Health Risk Pathogenic —
RS886039750 ASAH1 Health Risk Pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
RS886039751 PCCA Health Risk Likely pathogenic —
RS886039754 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS886039755 MME Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS886039756 UBA5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 44
RS886039757 UBA5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 44
RS886039758 UBA5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 44
RS886039759 UBA5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 44
RS886039760 UBA5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 44
RS886039761 UBA5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 44
RS886039762 UBA5 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 24
RS886039763 HNRNPH2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked
RS886039764 HNRNPH2 Health Risk Pathogenic Intellectual disability, X-linked
RS886039767 SLC5A7 Health Risk Likely pathogenic Congenital myasthenic syndrome 20, Congenital myasthenic syndrome 20
RS886039768 SLC5A7 Health Risk Pathogenic Congenital myasthenic syndrome 20, Congenital myasthenic syndrome 20
RS886039769 NR5A1 Health Risk Conflicting classifications of pathogenicity 46, XY sex reversal 3
RS886039770 TOP2B Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS886039773 SON Health Risk Pathogenic/Likely pathogenic ZTTK syndrome, Failure to thrive
RS886039774 SON Health Risk Pathogenic ZTTK syndrome, Inborn genetic diseases
RS886039775 SON Health Risk Pathogenic/Likely pathogenic ZTTK syndrome, ZTTK syndrome
RS886039776 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS886039777 SON Health Risk Pathogenic/Likely pathogenic ZTTK syndrome, Failure to thrive
RS886039778 SON Health Risk Likely pathogenic ZTTK syndrome, Failure to thrive
RS886039779 SON Health Risk Likely pathogenic ZTTK syndrome, Failure to thrive
RS886039780 SQSTM1 Health Risk Pathogenic Neurodegeneration with ataxia, dystonia
RS886039781 SQSTM1 Health Risk Pathogenic Neurodegeneration with ataxia, dystonia
RS886039782 SQSTM1 Health Risk Pathogenic Neurodegeneration with ataxia, dystonia
RS886039783 SNORD118 Health Risk Pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS886039784 SNORD118 Health Risk Pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS886039785 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886039786 NNT Health Risk Pathogenic Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
RS886039787 NNT Health Risk Pathogenic GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY, GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY
RS886039788 NNT Health Risk Likely pathogenic GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY, Glucocorticoid deficiency 4
RS886039789 NNT Health Risk Pathogenic Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
RS886039790 NNT Health Risk Pathogenic Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
RS886039791 TXNDC15 Health Risk Pathogenic Meckel-Gruber syndrome, Meckel syndrome 14
RS886039792 TXNDC15 Health Risk Pathogenic Meckel-Gruber syndrome, Meckel syndrome 14
RS886039793 EXOC3L2 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Brain malformation renal syndrome
RS886039794 LRRCC1 Health Risk Pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS886039795 TMEM256 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS886039797 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS886039798 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS886039799 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS886039800 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS886039801 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS886039802 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS886039803 MKS1 Health Risk Pathogenic Meckel-Gruber syndrome, Meckel syndrome
RS886039804 TMEM138 Health Risk Likely pathogenic Meckel-Gruber syndrome, Meckel-Gruber syndrome
RS886039805 CEP290 Health Risk Likely pathogenic Meckel-Gruber syndrome, Meckel syndrome
RS886039806 KIAA0586 Health Risk Likely pathogenic Meckel-Gruber syndrome, Meckel-Gruber syndrome
RS886039807 TMEM231 Health Risk Conflicting classifications of pathogenicity Joubert syndrome and related disorders, Meckel syndrome
RS886039808 CEP290 Health Risk Pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS886039809 KIAA0586 Health Risk Pathogenic Joubert syndrome and related disorders, Joubert syndrome 23
RS886039810 TMEM67 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS886039812 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS886039813 OFD1 Health Risk Pathogenic Orofacial-digital syndrome III, Orofaciodigital syndrome I
RS886039814 WDR19 Health Risk Pathogenic/Likely pathogenic Cranioectodermal dysplasia, Senior-Loken syndrome 8
RS886039815 DYNLT2B Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Short-rib thoracic dysplasia 17 with or without polydactyly
RS886039817 GABRB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 45
RS886039818 GABRB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 45
RS886039819 SERPINH1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10
RS886039820 MAT2A Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS886039821 PIEZO2 Health Risk Pathogenic/Likely pathogenic Arthrogryposis, distal
RS886039822 PIEZO2 Health Risk Pathogenic/Likely pathogenic Arthrogryposis, distal
RS886039823 PIEZO2 Health Risk Pathogenic Arthrogryposis, distal
RS886039824 PIEZO2 Health Risk Pathogenic Arthrogryposis, distal
RS886039829 APOB Health Risk Pathogenic Hypercholesterolemia, familial
RS886039830 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS886039831 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS886039834 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS886039837 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS886039839 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS886039853 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia
RS886039854 DNAJC6 Health Risk Pathogenic Juvenile onset Parkinson disease 19A, Juvenile onset Parkinson disease 19A
RS886039855 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS886039861 OFD1 Health Risk Pathogenic —
RS886039866 TNFRSF1A Health Risk Pathogenic Behcet disease, Behcet disease
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