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
RS1560929669 TBCK Health Risk Likely pathogenic Hypotonia, infantile
RS1560929898 LARP7 Health Risk Likely pathogenic Microcephalic primordial dwarfism, Alazami type
RS1560938296 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1560949756 NR3C2 Health Risk Pathogenic Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pseudohypoaldosteronism type 1
RS1560950739 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1560950756 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1560952256 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1560962569 GLRB Health Risk Pathogenic Hyperekplexia 2, Hyperekplexia 2
RS1560962636 GLRB Health Risk Pathogenic Hyperekplexia 2, Hyperekplexia 2
RS1560965164 NAA15 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 50
RS1560966086 NAA15 Health Risk Pathogenic Intellectual disability, autosomal dominant 50
RS1560973467 SLC10A7 Health Risk Pathogenic Short stature, amelogenesis imperfecta
RS1560973571 SLC10A7 Health Risk Pathogenic Short stature, amelogenesis imperfecta
RS1560973974 NAA15 Health Risk Pathogenic NAA15-related syndrome, NAA15-related syndrome
RS1560977811 NAA15 Health Risk Likely pathogenic —
RS1560980659 SLC10A7 Health Risk Pathogenic Short stature, amelogenesis imperfecta
RS1560980728 SLC10A7 Health Risk Pathogenic —
RS1560980939 SDHA Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1560980986 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1560982564 NSUN2 Health Risk Pathogenic Intellectual disability, autosomal recessive 5
RS1560984816 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1560985310 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1560985916 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1560986132 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1560989804 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1560992565 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1560994766 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1560998734 ANTXR2 Health Risk Likely pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS1561001683 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1561002040 RAB33B Health Risk Pathogenic/Likely pathogenic Smith-McCort dysplasia 2, Smith-McCort dysplasia 2
RS1561010916 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1561010948 SDHA Health Risk Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1561063218 TRAPPC11 Health Risk Likely pathogenic TRAPPC11-related disorder, TRAPPC11-related disorder
RS1561073938 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1561081319 HCN1 Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 10
RS1561081472 OXCT1 Health Risk Likely pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS1561083229 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1561097225 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1561101302 NIPBL Health Risk Pathogenic —
RS1561101881 NDUFS6 Health Risk Pathogenic/Likely pathogenic —
RS1561102612 NDUFS6 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 9
RS1561102614 NDUFS6 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 9
RS1561102868 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1561117442 MCIDAS Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1561119439 NIPBL Health Risk Pathogenic —
RS1561120793 HCN1 Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 10
RS1561121987 CCNO Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1561122898 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1561123748 IL31RA Health Risk Pathogenic Amyloidosis, primary localized cutaneous
RS1561128268 OXCT1 Health Risk Likely pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS1561136548 CTNND2 Health Risk Likely pathogenic —
RS1561139569 HCN1 Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 10
RS1561145912 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1561159768 LIFR Health Risk Pathogenic/Likely pathogenic Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS1561164598 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1561165786 SLC6A19 Health Risk Pathogenic —
RS1561169166 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1561179103 MOCS2 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS1561179800 LIFR Health Risk Conflicting classifications of pathogenicity Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS1561179853 LIFR Health Risk Pathogenic Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS1561180439 DNAJC21 Health Risk Pathogenic Bone marrow failure syndrome 3, Inborn genetic diseases
RS1561183139 DNAJC21 Health Risk Pathogenic Bone marrow failure syndrome 3, Bone marrow failure syndrome 3
RS1561184482 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1561193071 MAP3K1 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1561194110 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1561197425 ARSB Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1561197865 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, ARSB-related disorder
RS1561198459 MAP3K1 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1561199329 MAP3K1 Health Risk Likely pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1561199493 MAP3K1 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1561204571 MAP3K1 Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1561207924 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1561213308 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1561213355 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1561213553 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1561213572 TERT Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1561214997 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1561215326 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1561215364 TERT Health Risk Pathogenic Lung sarcomatoid carcinoma, Neoplasm
RS1561215953 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1561222491 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1561222655 NIPBL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 1
RS1561222738 NIPBL Health Risk Pathogenic/Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1561223826 FGF10 Health Risk Pathogenic —
RS1561230486 HCN1 Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 10
RS1561230533 HCN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1561230606 HCN1 Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 10
RS1561231553 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Inborn genetic diseases
RS1561241156 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1561243383 C7 Health Risk Likely pathogenic —
RS1561245416 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS1561246744 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1561247874 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1561251388 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1561251640 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1561253718 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1561254290 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1561273261 KIF2A Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 3, Complex cortical dysplasia with other brain malformations 3
RS1561279060 USP53 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS1561291313 MARVELD2 Health Risk Pathogenic —
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