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
RS878854411 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS878854412 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS878854413 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS878854414 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS878854415 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS878854416 HECW2 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS878854417 HECW2 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS878854418 NEXMIF Health Risk Pathogenic —
RS878854419 NEXMIF Health Risk Pathogenic —
RS878854420 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS878854421 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS878854422 HECW2 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS878854423 NEXMIF Health Risk Pathogenic —
RS878854425 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS878854428 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878854432 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878854433 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS878854435 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS878854436 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS878854441 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS878854444 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, DNAH11-related disorder
RS878854445 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, DNAH11-related disorder
RS878854446 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS878854450 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS878854452 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS878854457 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS878854458 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS878854459 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS878854466 ACTA2 Health Risk Pathogenic/Likely pathogenic Aortic aneurysm, familial thoracic 6
RS878854485 EPCAM Health Risk Pathogenic —
RS878854488 EPCAM Health Risk Pathogenic —
RS878854491 EPCAM Health Risk Pathogenic —
RS878854496 EPCAM Health Risk Likely pathogenic —
RS878854502 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS878854503 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS878854506 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS878854511 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS878854516 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS878854522 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS878854523 POLD1 Health Risk Likely pathogenic Colorectal cancer, susceptibility to
RS878854525 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS878854526 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS878854529 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS878854530 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS878854534 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS878854539 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS878854541 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS878854557 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS878854560 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Mitochondrial disease
RS878854562 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS878854563 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS878854569 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation syndrome
RS878854570 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS878854572 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS878854574 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS878854575 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS878854576 SDHB Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4
RS878854589 SDHD Health Risk Pathogenic Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 1
RS878854590 SDHD Health Risk Pathogenic Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 1
RS878854591 SDHD Health Risk Pathogenic Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 1
RS878854594 SDHD Health Risk Pathogenic/Likely pathogenic Cowden syndrome 3, Paragangliomas with sensorineural hearing loss
RS878854600 SMARCB1 Health Risk Pathogenic/Likely pathogenic SMARCB1-related schwannomatosis, Schwannoma
RS878854603 SMARCE1 Health Risk Pathogenic Familial meningioma, Familial meningioma
RS878854606 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS878854610 TGFBR2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS878854611 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS878854612 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS878854615 ST3GAL5 Health Risk Conflicting classifications of pathogenicity GM3 synthase deficiency, Inborn genetic diseases
RS878854618 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS878854619 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS878854621 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS878854627 SDHA Health Risk Pathogenic/Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS878854628 SDHA Health Risk Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS878854630 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS878854631 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS878854632 SDHA Health Risk Pathogenic/Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS878854634 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS878854644 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS878854645 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS878854653 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS878854664 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS878854667 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS878854668 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS878854672 BMPR1A Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS878854673 BMPR1A Health Risk Pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome
RS878854675 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, Costello syndrome
RS878854676 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS878854677 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS878854683 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS878854685 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS878854687 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS878854688 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS878854690 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS878854691 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS878854697 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS878854698 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS878854700 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS878854703 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Hereditary cancer-predisposing syndrome
RS878854710 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS878854714 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
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