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
RS904030973 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS904041405 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Inborn genetic diseases
RS904045520 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS904049980 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS904050143 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS904060362 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS904072058 CNKSR2 Health Risk Pathogenic Intellectual disability, X-linked
RS904118831 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS904122716 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS904166744 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS904200599 TASP1 Health Risk Likely pathogenic Abnormal facial shape, Global developmental delay
RS904261642 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS904289501 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS904293109 APTX Health Risk Pathogenic/Likely pathogenic Ataxia, early-onset
RS904329013 MFSD8 Health Risk Pathogenic —
RS904363589 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, SATB2-related disorder
RS904372024 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS904408037 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Congenital myasthenic syndrome
RS904411432 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS904415979 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS904425938 NFIA Health Risk Pathogenic —
RS904472324 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS904496072 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Hereditary spastic paraplegia
RS904520404 DCDC2 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 19, Autosomal recessive nonsyndromic hearing loss 66
RS904552535 KMT2B Health Risk Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
RS904555328 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS904563789 SPRED1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Legius syndrome
RS904572688 DCPS Health Risk Likely pathogenic Al-Raqad syndrome, Al-Raqad syndrome
RS904589402 ATM Health Risk Pathogenic Breast and/or ovarian cancer, Familial cancer of breast
RS904620951 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS904631654 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS904660062 COL2A1 Health Risk Conflicting classifications of pathogenicity COL2A1-related disorder, COL2A1-related disorder
RS904672363 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS904695058 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14
RS904711508 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS904779823 ZMYM2 Health Risk Pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
RS904787531 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS904790792 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS904821775 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS904822604 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS904846776 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS904849438 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer, Hereditary cancer
RS904850136 MYH2 Health Risk Pathogenic/Likely pathogenic Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome, Myopathy
RS904872305 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS904882409 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS904920254 TRIM37 Health Risk Pathogenic —
RS904926146 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Inborn genetic diseases
RS904944428 DCDC2 Health Risk Pathogenic Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66
RS904972651 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS904984161 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Inborn genetic diseases
RS904994238 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS904996327 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS905025919 ABCB4 Health Risk Pathogenic —
RS905047580 WEE2 Health Risk Pathogenic Oocyte maturation defect 5, Oocyte maturation defect 5
RS905051930 ARID1A Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS905065417 TMEM231 Health Risk Pathogenic Meckel syndrome, type 11
RS905074313 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS905110628 SON Health Risk Pathogenic —
RS905116504 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11
RS905140253 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS905177395 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS905179122 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS905184241 TBK1 Health Risk Conflicting classifications of pathogenicity Motor neuron disease, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS905195009 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Inborn genetic diseases
RS905226907 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS905244464 TRAF3IP1 Health Risk Likely pathogenic Cervical cancer, Cervical cancer
RS905262279 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS905287265 TRIO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS905295349 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS905321122 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS905322985 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS905341773 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS905353542 CUL4B Health Risk Likely pathogenic X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
RS905365719 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis
RS905456471 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS905491643 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS905563416 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS905574009 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS905577227 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Inborn genetic diseases
RS905626929 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS905629792 POGLUT1 Health Risk Likely pathogenic —
RS905644652 SLC26A2 Health Risk Pathogenic/Likely pathogenic Multiple epiphyseal dysplasia type 4, Achondrogenesis
RS905672088 F5 Health Risk Likely pathogenic Factor V deficiency, Factor V deficiency
RS905674348 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS905675504 IFT122 Health Risk Pathogenic/Likely pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS905788991 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS905791071 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS905812561 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS905819290 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia
RS905872208 ASXL3 Health Risk Conflicting classifications of pathogenicity —
RS905875040 ITGA6 Health Risk Pathogenic —
RS905880501 HSD3B2 Health Risk Pathogenic/Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS905909594 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS905919709 PROM1 Health Risk Conflicting classifications of pathogenicity —
RS905919862 OPA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS905928272 RNU4ATAC Health Risk Conflicting classifications of pathogenicity RNU4ATAC spectrum disorder, RNU4ATAC spectrum disorder
RS905939046 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS905944088 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS905945538 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS905951607 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
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