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
RS770206566 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome
RS770207023 EMC1 Health Risk Pathogenic —
RS770209084 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS770210023 YARS2 Health Risk Pathogenic —
RS770210088 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS770210620 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS770211260 GPNMB Health Risk Pathogenic Amyloidosis, primary localized cutaneous
RS770211384 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS770212030 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS770212594 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS770213028 SLC34A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770213403 STIL Health Risk Conflicting classifications of pathogenicity Microcephaly 7, primary
RS770213442 PIK3R1 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 7, autosomal recessive
RS770214071 AAAS Health Risk Pathogenic/Likely pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS770214397 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS770214413 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS770214617 SLC5A2 Health Risk Pathogenic/Likely pathogenic Familial renal glucosuria, Familial renal glucosuria
RS770216059 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS770216458 COL7A1 Health Risk Pathogenic/Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS770217478 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS770218017 TYR Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS770218590 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 12, Retinal dystrophy
RS770218767 TUBGCP6 Health Risk Pathogenic —
RS770219125 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases
RS770219362 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS770219373 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS770221652 MYH6 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 14
RS770222544 OTOG Health Risk Conflicting classifications of pathogenicity —
RS770222800 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770224427 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS770225915 HMGCL Health Risk Pathogenic/Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS770226543 ASXL3 Health Risk Conflicting classifications of pathogenicity Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Inborn genetic diseases
RS770226644 TUBB1 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia, isolated
RS770227589 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS770227764 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770227800 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS770228554 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS770231054 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS770232566 CDT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Meier-Gorlin syndrome 4
RS770233429 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770234424 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS770234475 SNAP29 Health Risk Conflicting classifications of pathogenicity CEDNIK syndrome, Inborn genetic diseases
RS770235902 COASY Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation, Pontocerebellar hypoplasia
RS770236437 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS770237630 IL7R Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Inborn genetic diseases
RS770237894 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Inborn genetic diseases
RS770238157 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS770238710 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS770238976 MTHFR Health Risk Pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS770239154 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS770239604 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS770240346 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS770241381 NXN Health Risk Pathogenic —
RS770241643 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS770241645 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS770241678 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS770241913 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS770241997 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, APC-related disorder
RS770244203 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS770244453 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS770246364 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS770246669 FGB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770247815 AKR1D1 Health Risk Pathogenic/Likely pathogenic Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
RS770248150 KRAS Health Risk Pathogenic Encephalocraniocutaneous lipomatosis, Colorectal cancer
RS770248553 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS770249022 ALDH18A1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS770249657 DYNC2I1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases
RS770250175 HNF4A Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS770250347 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS770250516 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS770250664 ERCC6L2 Health Risk Pathogenic —
RS770251723 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia 1
RS770251775 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS770252526 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770253928 TUBGCP6 Health Risk Pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS770254231 CPAP Health Risk Conflicting classifications of pathogenicity —
RS770254456 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS770255014 EMC10 Health Risk Pathogenic Intellectual disability, Neurodevelopmental disorder with dysmorphic facies and variable seizures
RS770255148 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS770255299 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS770255396 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS770255439 DNA2 Health Risk Conflicting classifications of pathogenicity —
RS770255643 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS770256450 KIAA0753 Health Risk Pathogenic Short-rib thoracic dysplasia 21 without polydactyly, Short-rib thoracic dysplasia 21 without polydactyly
RS770257115 ATP8B1 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS770257307 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS770258677 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome 2, Retinitis pigmentosa
RS770258839 MPDZ Health Risk Pathogenic/Likely pathogenic Hydrocephalus, nonsyndromic
RS77025884 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Autism
RS770258999 LOXHD1 Health Risk Pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS770260964 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS770260995 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS770262148 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS770262329 PHYH Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Phytanic acid storage disease
RS770263417 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS770264114 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS770264567 MAP3K1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 46
RS770264966 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS770266168 LRBA Health Risk Conflicting classifications of pathogenicity Inherited Immunodeficiency Diseases, Combined immunodeficiency due to LRBA deficiency
RS770266757 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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