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
RS932952740 CPLANE1 Health Risk Pathogenic —
RS932956802 TUFT1 Health Risk Pathogenic Woolly hair-skin fragility syndrome, Woolly hair-skin fragility syndrome
RS933026071 SLC5A1 Health Risk Likely pathogenic SLC5A1-related disorder, Congenital glucose-galactose malabsorption
RS933030670 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS933036653 SLC16A2 Health Risk Pathogenic Spastic paraplegia, Allan-Herndon-Dudley syndrome
RS933106143 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS933114782 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS933142627 RAF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Noonan syndrome 5
RS933169926 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS933176029 CEP63 Health Risk Pathogenic —
RS933195273 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS9332220 CYP2C9 Health Risk association Pulmonary disease, chronic obstructive
RS933233143 SELENOI Health Risk Pathogenic Spastic paraplegia 81, autosomal recessive
RS933237458 FARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS933245871 PTPRQ Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A
RS933257311 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS933258893 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Congenital myopathy 22B
RS9332605 F5 Health Risk Conflicting classifications of pathogenicity Congenital factor V deficiency, Congenital factor V deficiency
RS9332677 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS9332719 C2 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 14, Complement component 2 deficiency
RS933273265 AP4B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 47, Hereditary spastic paraplegia
RS9332736 C2 Health Risk Pathogenic/Likely pathogenic Complement component 2 deficiency, C2 deficiency
RS933284199 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS9332960 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, SRD5A2-related disorder
RS9332961 SRD5A2 Health Risk Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS9332964 SRD5A2 Health Risk Pathogenic/Likely pathogenic Micropenis, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS9332966 SRD5A2 Health Risk Conflicting classifications of pathogenicity 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS933296601 MTFMT Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 15, Inborn genetic diseases
RS9332967 SRD5A2 Health Risk Pathogenic/Likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, SRD5A2-related disorder
RS9332969 AR Health Risk Pathogenic Partial androgen insensitivity syndrome, Androgen resistance syndrome
RS9332970 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS9332971 AR Health Risk Pathogenic Partial androgen insensitivity syndrome, Androgen resistance syndrome
RS9332974 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Nephrotic syndrome
RS933331654 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS933333847 F11 Health Risk Pathogenic —
RS9333378 MGST3 Health Risk association Pulmonary disease, chronic obstructive
RS9333548 POLH Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum variant type, Xeroderma pigmentosum
RS933356579 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS9333649 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Congenital long QT syndrome
RS933370216 CLRN1 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 3, Usher syndrome type 3
RS933379958 FRRS1L Health Risk Pathogenic Developmental and epileptic encephalopathy, 37
RS933381749 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS933385444 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS933392379 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS933412369 KLF11 Health Risk Conflicting classifications of pathogenicity —
RS933422777 AGPAT2 Health Risk Pathogenic/Likely pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS933434691 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS933464584 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS933476040 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS933498193 FYCO1 Health Risk Pathogenic FYCO1-related disorder, FYCO1-related disorder
RS933499397 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS933508115 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS933536639 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS933572056 TBCD Health Risk Pathogenic —
RS933577333 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS933589600 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS933592081 ECHS1 Health Risk Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS933601432 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS933604666 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS933617964 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS933624223 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS933648254 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS933657325 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS933672395 CREBBP Health Risk Pathogenic/Likely pathogenic Menke-Hennekam syndrome 1, Inborn genetic diseases
RS933702160 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS933715329 PIP5K1A Health Risk Likely pathogenic Intellectual developmental disorder 60 with seizures, Intellectual developmental disorder 60 with seizures
RS933746831 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Abnormality of the nervous system
RS933777198 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS933813349 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS933815442 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS933828560 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS933842186 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS933885701 KCNQ5 Health Risk Conflicting classifications of pathogenicity —
RS933913059 FANCL Health Risk Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia
RS933980617 ERCC6 Health Risk Pathogenic —
RS934014841 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Cutis laxa
RS934030293 ABCB11 Health Risk Likely pathogenic —
RS934035216 UBE3B Health Risk Pathogenic —
RS934035500 SETD2 Health Risk Likely pathogenic SETD2-related disorder, SETD2-related disorder
RS934111355 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS934115207 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS934115584 ABCG8 Health Risk Pathogenic ABCG8-related disorder, Sitosterolemia 1
RS9341246 CYP1B1 Health Risk Conflicting classifications of pathogenicity Congenital glaucoma, Congenital glaucoma
RS934138970 MTO1 Health Risk Pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS934153273 KL Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS934172185 PDE6B Health Risk Likely pathogenic —
RS934177451 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS934194113 OTOG Health Risk Likely pathogenic —
RS934214433 GPR179 Health Risk Pathogenic —
RS934215303 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS934259733 LMBRD1 Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS934260435 TAMM41 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 56, Acute myeloid leukemia
RS934266733 ATP6V0A4 Health Risk Likely pathogenic Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
RS934278063 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related disorder, Hypertrophic cardiomyopathy
RS934287314 OPTN Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 12, Glaucoma 1
RS934317603 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS934324267 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS934368057 DLL3 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 1, autosomal recessive
RS934388592 QRICH2 Health Risk Pathogenic Spermatogenic failure 35, Spermatogenic failure 35
RS934411514 HADHA Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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