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
RS2477938090 PRDM5 Health Risk Likely pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS2477938100 NIPBL Health Risk Pathogenic NIPBL-related disorder, Cornelia de Lange syndrome 1
RS2477938724 SLC6A19 Health Risk Likely pathogenic —
RS2477939209 SLC6A19 Health Risk Likely pathogenic Hyperglycinuria, Hyperglycinuria
RS2477943667 PRDM5 Health Risk Likely pathogenic —
RS2477951256 SLC6A19 Health Risk Likely pathogenic Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS2477956523 PRDM5 Health Risk Likely pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS2477956659 SLC6A19 Health Risk Pathogenic —
RS2477956792 SLC6A19 Health Risk Pathogenic —
RS2477966287 HPGD Health Risk Conflicting classifications of pathogenicity Hypertrophic osteoarthropathy, primary
RS2477994517 PRDM5 Health Risk Pathogenic —
RS2478006956 HCN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2478007024 HCN1 Health Risk Likely pathogenic HCN1-related disorder, HCN1-related disorder
RS2478007054 HCN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 24
RS2478010687 CDH23 Health Risk Pathogenic —
RS2478030893 NIPBL Health Risk Pathogenic —
RS2478052485 C6 Health Risk Likely pathogenic Complement component 6 deficiency, Complement component 6 deficiency
RS2478057377 PRDM5 Health Risk Likely pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS2478065345 PRDM5 Health Risk Pathogenic/Likely pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS2478065733 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2478066648 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS2478073438 TERT Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS2478075183 BLTP1 Health Risk Likely pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS2478079570 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478079621 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478083772 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2478083791 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2478085477 NIPBL Health Risk Likely pathogenic —
RS2478086177 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478086569 BLTP1 Health Risk Likely pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS2478088445 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478089251 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478089661 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478106403 TERT Health Risk Likely pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2478106977 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478115308 NIPBL Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2478128940 TERT Health Risk Likely pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2478129386 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2478145394 HCN1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2478145437 NIPBL Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS2478145468 HCN1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2478146774 NIPBL Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2478150791 C7 Health Risk Pathogenic —
RS2478152673 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2478152935 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2478154164 TERT Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2478158664 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478158871 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478165471 TERT Health Risk Likely pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2478165841 TERT Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS2478166056 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478166905 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478170124 OTULIN Health Risk Pathogenic Autoinflammation, panniculitis
RS2478170948 OTULIN Health Risk risk factor Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
RS2478180846 TERT Health Risk Likely pathogenic Pulmonary fibrosis, Pulmonary fibrosis and/or bone marrow failure
RS2478181993 HCN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 24
RS2478185742 OTULIN Health Risk Likely pathogenic Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
RS2478191783 NIPBL Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2478191869 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478192839 C7 Health Risk Pathogenic —
RS2478193108 C7 Health Risk Pathogenic —
RS2478197098 C6 Health Risk Pathogenic —
RS2478199968 TERT Health Risk Likely pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2478200217 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis, Dyskeratosis congenita
RS2478209197 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS2478210028 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2478210424 CPE Health Risk Pathogenic —
RS2478212284 OTULIN Health Risk Pathogenic Autoinflammation, panniculitis
RS2478217713 COL4A3 Health Risk Pathogenic —
RS2478223249 OTULIN Health Risk risk factor Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
RS2478223403 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2478223549 OTULIN Health Risk risk factor Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
RS2478223717 OTULIN Health Risk Pathogenic Autoinflammation, panniculitis
RS2478223888 OTULIN Health Risk Pathogenic Autoinflammation, panniculitis
RS2478233648 CPE Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2478250966 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478251255 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478251946 HMGCS1 Health Risk Pathogenic Rigid spine syndrome, CONGENITAL MYOPATHY 28 WITH RIGID SPINE
RS2478254671 OXCT1 Health Risk Likely pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS2478268894 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478269274 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478274631 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS2478275359 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS2478275416 HMGCS1 Health Risk Pathogenic Rigid spine syndrome, CONGENITAL MYOPATHY 28 WITH RIGID SPINE
RS2478275619 TERT Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2478276765 C7 Health Risk Pathogenic —
RS2478277661 TERT Health Risk Likely pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2478285433 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS2478294429 HMGCS1 Health Risk Pathogenic Rigid spine syndrome, CONGENITAL MYOPATHY 28 WITH RIGID SPINE
RS2478306957 TERT Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2478311889 GHR Health Risk Pathogenic —
RS2478312896 OXCT1 Health Risk Pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS2478316314 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478318314 NIPBL Health Risk Pathogenic —
RS2478318349 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478318371 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478338103 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478340497 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2478349923 FGF10 Health Risk Likely pathogenic Levy-Hollister syndrome, Congenital absence of salivary gland
RS2478364756 NNT Health Risk Likely pathogenic —
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