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
RS2478366575 NIPBL Health Risk Pathogenic/Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478390820 ZSWIM6 Health Risk Conflicting classifications of pathogenicity —
RS2478407432 TERT Health Risk Likely pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2478407542 TBCK Health Risk Pathogenic —
RS2478407891 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2478409005 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2478409294 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2478409320 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2478410604 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2478412286 C6 Health Risk Pathogenic C6-related disorder, C6-related disorder
RS2478412591 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2478413544 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2478414096 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2478415125 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2478416695 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2478417168 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2478420652 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2478420833 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2478424918 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS2478426642 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2478426798 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2478427484 TERT Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS2478428691 TERT Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS2478430098 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis, Dyskeratosis congenita
RS2478430165 TERT Health Risk Pathogenic Telomere syndrome, Telomere syndrome
RS2478430547 TERT Health Risk Pathogenic Telomere syndrome, Telomere syndrome
RS2478433975 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2478434872 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2478436219 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2478436799 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2478444503 TBCK Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS2478488956 NNT Health Risk Pathogenic Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
RS2478489596 NNT Health Risk Pathogenic Glucocorticoid deficiency 4, Glucocorticoid deficiency 4
RS2478496882 C6 Health Risk Likely pathogenic —
RS2478499700 NNT Health Risk Pathogenic —
RS2478513634 MCIDAS Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS2478513916 MCIDAS Health Risk Pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2478516683 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478517111 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478527360 MCIDAS Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2478541571 OTOG Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2478542924 FGF10 Health Risk Pathogenic Lacrimoauriculodentodigital syndrome 3, Lacrimoauriculodentodigital syndrome 3
RS2478542933 FGF10 Health Risk Pathogenic Lacrimoauriculodentodigital syndrome 3, Lacrimoauriculodentodigital syndrome 3
RS2478543204 HCN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 24
RS2478543222 HCN1 Health Risk Likely pathogenic —
RS2478543697 HCN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2478543843 HCN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 24
RS2478544218 FGF10 Health Risk Likely pathogenic Congenital absence of salivary gland, Congenital absence of salivary gland
RS2478547757 CCNO Health Risk Likely pathogenic Primary ciliary dyskinesia 29, Primary ciliary dyskinesia 29
RS2478547859 CCNO Health Risk Likely pathogenic Primary ciliary dyskinesia 29, Primary ciliary dyskinesia 29
RS2478548362 CCNO Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2478548428 CCNO Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2478566625 MAP1B Health Risk Pathogenic Periventricular nodular heterotopia 9, Hearing loss
RS2478569039 MAP1B Health Risk Pathogenic MAP1B-related disorder, MAP1B-related disorder
RS2478570422 MAP1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2478571532 MAP1B Health Risk Likely pathogenic MAP1B-related disorder, MAP1B-related disorder
RS2478571735 MAP1B Health Risk Pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS2478574299 MAP1B Health Risk Pathogenic/Likely pathogenic Periventricular nodular heterotopia 9, Hearing loss
RS2478575646 MAP1B Health Risk Likely pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS2478576114 MAP1B Health Risk Likely pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS2478576911 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478577098 MAP1B Health Risk Pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS2478577140 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478579416 MAP1B Health Risk Likely pathogenic —
RS2478585499 MAP1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2478587077 MAP1B Health Risk Pathogenic —
RS2478587495 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478588532 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478595358 MOCS2 Health Risk Pathogenic —
RS2478597345 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478598205 MOCS2 Health Risk Pathogenic —
RS2478601175 MOCS2 Health Risk Pathogenic —
RS2478601239 OXCT1 Health Risk Pathogenic/Likely pathogenic Succinyl-CoA acetoacetate transferase deficiency, OXCT1-related disorder
RS2478601399 MOCS2 Health Risk Pathogenic —
RS2478601574 MOCS2 Health Risk Pathogenic —
RS2478601638 MOCS2 Health Risk Pathogenic —
RS2478613115 MOCS2 Health Risk Pathogenic —
RS2478613193 MOCS2 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS2478617582 MOCS2 Health Risk Likely pathogenic —
RS2478617586 MOCS2 Health Risk Likely pathogenic —
RS2478617885 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478618205 NIPBL Health Risk Likely pathogenic NIPBL-related disorder, NIPBL-related disorder
RS2478618302 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478623115 MOCS2 Health Risk Likely pathogenic —
RS2478623197 MOCS2 Health Risk Pathogenic —
RS2478624222 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478624537 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478624702 NIPBL Health Risk Pathogenic NIPBL-related disorder, NIPBL-related disorder
RS2478625150 NIPBL Health Risk Likely pathogenic NIPBL-related disorder, NIPBL-related disorder
RS2478648157 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS2478658527 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478658757 NIPBL Health Risk Likely pathogenic —
RS2478658915 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478659391 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478682508 NDUFS4 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 1
RS2478682624 NDUFS4 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 1
RS2478687537 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS2478687880 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS2478687957 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS2478687962 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
« Prev 1 ... 2064 2065 2066 2067 2068 2069 2070 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →