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
RS778209826 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS778210210 SLC39A8 Health Risk Pathogenic/Likely pathogenic SLC39A8-CDG, SLC39A8-CDG
RS778212096 SDHC Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS778212657 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, TJP2-related disorder
RS778214598 PCBD1 Health Risk Conflicting classifications of pathogenicity Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
RS77821631 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS778216481 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS778217414 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS778217501 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS778217926 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Nephrotic syndrome
RS778218106 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 28
RS778218227 TTBK2 Health Risk Likely pathogenic Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11
RS778219583 TBCK Health Risk Likely pathogenic —
RS778219649 GARS1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS778220325 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS778220523 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CREBBP-related disorder
RS778220779 CBS Health Risk Pathogenic/Likely pathogenic Classic homocystinuria, Homocystinuria
RS778221567 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS778222400 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778222536 OTOG Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Rare genetic deafness
RS778222701 CFAP410 Health Risk Pathogenic Axial spondylometaphyseal dysplasia, Axial spondylometaphyseal dysplasia
RS778223264 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS778223284 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778223936 MAK Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS778224065 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS778224699 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS778225010 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 13, Hyperinsulinemic hypoglycemia
RS778225931 PLA2G6 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS778226392 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS778227501 DOK7 Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS778229060 WASF1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS778229703 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS778232217 ALPL Health Risk Pathogenic Hypophosphatasia, Adult hypophosphatasia
RS778232235 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS778232650 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS778233452 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS778234022 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS778234498 PCNT Health Risk Likely pathogenic PCNT-related disorder, PCNT-related disorder
RS778234716 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778234759 ABCA4 Health Risk Pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS778235410 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease
RS778236337 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS778236359 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS778236403 CTSC Health Risk Pathogenic Papillon-Lefèvre syndrome, Periodontitis
RS778238435 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS778238908 POLE Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Colorectal cancer
RS778239281 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS778239562 VPS13C Health Risk Pathogenic —
RS778240883 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS778241115 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS778242201 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS778242891 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, PCCB-related disorder
RS778243582 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases
RS778244918 NARS1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, impaired language
RS778247643 COQ8A Health Risk Pathogenic —
RS778248464 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS778249693 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS778251205 CDH23 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS778251863 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778251901 CREBBP Health Risk Conflicting classifications of pathogenicity CREBBP-related disorder, Menke-Hennekam syndrome 1
RS778252554 POC1A Health Risk Likely pathogenic Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
RS778254234 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778254333 ASL Health Risk Pathogenic/Likely pathogenic Argininosuccinate lyase deficiency, Sarcoma
RS778254433 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS778254905 PLOD2 Health Risk Pathogenic/Likely pathogenic Bruck syndrome 2, Bruck syndrome 2
RS778254943 STAT1 Health Risk Likely pathogenic —
RS778255538 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778257341 BMPR1B Health Risk Conflicting classifications of pathogenicity Brachydactyly, Acromesomelic dysplasia 3
RS778257562 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778258042 APTX Health Risk Pathogenic Epilepsy, Epilepsy
RS778258207 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS778260156 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS778260923 B9D1 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS778261497 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS77826191 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS778263250 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS778263701 TOE1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS778264897 CCNF Health Risk Pathogenic/Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
RS778265507 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS778265576 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS778265926 ST3GAL5 Health Risk Pathogenic/Likely pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS77826920 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS778269575 ALG3 Health Risk Conflicting classifications of pathogenicity ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS778269655 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS778270132 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, EBV-positive nodal T- and NK-cell lymphoma
RS778270588 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS778271353 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS778271393 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS778272177 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome
RS778272482 FREM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, BNAR syndrome
RS778272737 MEN1 Health Risk Conflicting classifications of pathogenicity Hyperparathyroidism, Multiple endocrine neoplasia
RS778273984 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, Cone-rod dystrophy 7
RS778274557 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS778274864 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS778275358 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS778275831 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS778276270 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Short QT syndrome type 1
RS778276427 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS778277597 PACS1 Health Risk Conflicting classifications of pathogenicity PACS1-related disorder, Schuurs-Hoeijmakers syndrome
RS778278187 CAMTA1 Health Risk Conflicting classifications of pathogenicity —
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