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
RS918556979 POMT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS918621494 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS918627824 PKLR Health Risk Pathogenic/Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS918645468 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS918660416 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS918660998 ADGRV1 Health Risk Pathogenic —
RS918680618 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS918684449 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS918734933 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS918752814 BLM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS918755208 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS918788695 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Conotruncal heart malformations
RS918806733 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS918816907 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS918839874 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, CHRNE-related disorder
RS918913612 NEFH Health Risk Conflicting classifications of pathogenicity NEFH-related disorder, NEFH-related disorder
RS918933961 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, 8 conditions
RS918947511 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS918982108 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS919014520 VDR Health Risk Pathogenic —
RS919033318 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS919078015 ABCC2 Health Risk Pathogenic/Likely pathogenic —
RS919085412 KIF5A Health Risk Likely pathogenic —
RS919111760 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS919125796 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS919130135 DHTKD1 Health Risk Pathogenic Inborn genetic diseases, 2-aminoadipic 2-oxoadipic aciduria
RS919142559 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS919151683 IDUA Health Risk Pathogenic/Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS919157306 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS919177150 NTHL1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS919186738 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS919187835 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS919195476 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS919248019 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS919271118 CHRNE Health Risk Likely pathogenic —
RS919281813 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS919288120 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS919322708 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related myopathy
RS919333754 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS919334398 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS919338576 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS919358859 ADGRV1 Health Risk Pathogenic —
RS919402688 SEMA3A Health Risk risk factor Hypogonadotropic hypogonadism 16 with or without anosmia, Hypogonadotropic hypogonadism 16 with or without anosmia
RS919402785 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS919415219 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS919423974 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS919442493 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS919478619 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS919486001 PAX6 Health Risk Conflicting classifications of pathogenicity Aniridia 1, Irido-corneo-trabecular dysgenesis
RS919487431 GUCY1A1 Health Risk Likely pathogenic —
RS919583163 CHD8 Health Risk Conflicting classifications of pathogenicity —
RS919611062 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS919611781 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS919615608 ABCA3 Health Risk Pathogenic —
RS919662130 TENM3 Health Risk Pathogenic Microphthalmia, isolated
RS919695965 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS919707549 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS919717592 PDZD7 Health Risk Conflicting classifications of pathogenicity —
RS919772858 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Methylcobalamin deficiency type cblE
RS919827103 PSAT1 Health Risk Likely pathogenic Neu-Laxova syndrome 2, Neu-Laxova syndrome 2
RS919850756 CLN6 Health Risk Pathogenic/Likely pathogenic Ceroid lipofuscinosis, neuronal
RS919854764 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS919882726 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS919904139 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS919917378 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS919934942 SLFN14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS919993170 FH Health Risk Likely pathogenic —
RS919999972 NPHS1 Health Risk Likely pathogenic Nephrotic syndrome, Finnish congenital nephrotic syndrome
RS920061910 COL4A3 Health Risk Pathogenic/Likely pathogenic See cases, Alport syndrome
RS920074067 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS920106420 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS920135778 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS920139065 PIK3R2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
RS920162850 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS920196110 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS920199421 CYP1B1 Health Risk Likely pathogenic Anterior segment dysgenesis 6, Congenital glaucoma
RS920201335 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS920292604 IL10RB Health Risk Pathogenic Inflammatory bowel disease 25, Inflammatory bowel disease 25
RS920305028 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Coffin-Siris syndrome 1
RS920314861 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS920346355 HNF4A Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS920363358 INA Health Risk Likely pathogenic Abnormal brain morphology, Abnormal brain morphology
RS920376052 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS920392170 MTHFD1 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS920409035 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS920413118 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Alport syndrome
RS920449426 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS920504687 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS920685564 LRAT Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 14, Leber congenital amaurosis 14
RS920714816 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS920721092 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS920723962 PRDM12 Health Risk Conflicting classifications of pathogenicity Congenital insensitivity to pain-hypohidrosis syndrome, Congenital insensitivity to pain-hypohidrosis syndrome
RS920732487 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS920771326 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS920789685 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS920813876 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS920825350 MMAA Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblA type
RS920850257 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, POLG-related disorder
RS920852517 ILDR1 Health Risk Pathogenic/Likely pathogenic Childhood onset hearing loss, ILDR1-related disorder
RS920891229 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
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