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
RS1579327590 FAT1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1579342363 TBCK Health Risk Likely pathogenic —
RS1579360593 NSUN2 Health Risk Pathogenic —
RS1579368865 NSUN2 Health Risk Pathogenic Intellectual disability, autosomal recessive 5
RS1579369841 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1579369969 SDHA Health Risk Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1579370234 NSUN2 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 5
RS1579377564 GRIA2 Health Risk Likely pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS1579377586 GRIA2 Health Risk Pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS1579377990 NSUN2 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 5
RS1579379632 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1579379803 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS1579381374 SDHA Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1579381753 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS1579384604 SDHA Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS1579385526 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1579385645 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1579385837 NSUN2 Health Risk Pathogenic —
RS1579386206 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1579391225 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS1579391376 TBCK Health Risk Pathogenic Hypotonia, infantile
RS1579395680 TBCK Health Risk Pathogenic Neurodevelopmental disorder, Hypotonia
RS1579402180 SDHA Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 5
RS1579402188 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1579402807 SDHA Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1579406152 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1579406388 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1579407009 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1579409293 SDHA Health Risk Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1579409384 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1579409500 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1579410180 SDHA Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Dilated cardiomyopathy 1GG
RS1579417444 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1579437839 SDHA Health Risk Pathogenic/Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1579438260 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1579445044 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1579445179 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1579448914 TRIO Health Risk Pathogenic —
RS1579484850 FAT1 Health Risk Likely pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS1579486914 TTC29 Health Risk Pathogenic Spermatogenic failure 42, Spermatogenic failure 42
RS1579491104 FAT1 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1579522661 TRIO Health Risk Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS1579537069 MASP1 Health Risk Pathogenic 3MC syndrome 1, 3MC syndrome 1
RS1579541768 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1579547726 SLC45A2 Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR
RS1579551402 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1579557913 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1579564431 TRIO Health Risk Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS1579564717 SLC45A2 Health Risk Likely pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS1579570362 NIPBL Health Risk Pathogenic/Likely pathogenic Cornelia de Lange syndrome 1, NIPBL-related disorder
RS1579574831 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1579575848 TERT Health Risk Likely pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1579576029 ZNF148 Health Risk Pathogenic Global developmental delay, absent or hypoplastic corpus callosum
RS1579576360 ZNF148 Health Risk Likely pathogenic Global developmental delay, absent or hypoplastic corpus callosum
RS1579577192 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1579578234 ZNF148 Health Risk Likely pathogenic Global developmental delay, absent or hypoplastic corpus callosum
RS1579580058 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1579584983 TARS1 Health Risk Pathogenic Trichothiodystrophy 7, nonphotosensitive
RS1579585658 TARS1 Health Risk Pathogenic Trichothiodystrophy 7, nonphotosensitive
RS1579596470 TERT Health Risk Conflicting classifications of pathogenicity Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1579598699 TERT Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1579599309 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1579619636 MTRR Health Risk Pathogenic/Likely pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS1579626395 GHR Health Risk Pathogenic/Likely pathogenic Laron-type isolated somatotropin defect, Laron-type isolated somatotropin defect
RS1579633695 NIPBL Health Risk Pathogenic —
RS1579636931 GHR Health Risk Likely pathogenic —
RS1579663872 LOC126807212;TLL1 Health Risk Pathogenic Atrial septal defect 6, Atrial septal defect 6
RS1579675001 GHR Health Risk Pathogenic Laron syndrome with elevated serum GH-binding protein, Laron syndrome with elevated serum GH-binding protein
RS1579729357 SLC6A3 Health Risk Conflicting classifications of pathogenicity Classic dopamine transporter deficiency syndrome, Parkinsonism-dystonia
RS1579734448 IL6ST Health Risk Pathogenic Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS1579740974 CPLANE1 Health Risk Likely pathogenic Orofaciodigital syndrome type 6, Joubert syndrome 17
RS1579750361 MAP3K1 Health Risk Pathogenic/Likely pathogenic 46, XY sex reversal 6
RS1579758005 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS1579787268 TTC29 Health Risk Pathogenic Spermatogenic failure 42, Papillary renal cell carcinoma type 1
RS1579803563 TRIO Health Risk Likely pathogenic —
RS1579804792 TRIO Health Risk Likely pathogenic —
RS1579806394 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1579848888 C7 Health Risk Pathogenic Complement component 7 deficiency, Complement component 7 deficiency
RS1579881985 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1579884900 OXCT1 Health Risk Likely pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS1579888631 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS1579894454 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1579903197 OXCT1 Health Risk Likely pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS1579936916 NDUFS6 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 9
RS1579942226 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1579942510 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1579950499 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1579951018 TTC29 Health Risk Pathogenic Spermatogenic failure 42, Spermatogenic failure 42
RS1579952143 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1579966821 NNT Health Risk Pathogenic Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
RS1579976512 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS1579980919 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1579998709 ANKH Health Risk Pathogenic/Likely pathogenic Craniometaphyseal dysplasia, autosomal dominant
RS1580007152 ERCC8 Health Risk Pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1580023012 ERCC8 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1580026238 MAP1B Health Risk Pathogenic/Likely pathogenic Autism spectrum disorder, Periventricular nodular heterotopia
RS1580027036 MAP1B Health Risk Pathogenic 6 conditions, Periventricular nodular heterotopia 9
RS1580027328 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1580027407 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1580027713 MSH3 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
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