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
RS112825341 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Muscular dystrophy
RS112827330 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS112828880 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS112829030 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, MAN2B1-related disorder
RS112830882 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS112832782 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS112832879 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS112833938 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS112835359 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS112836174 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112838331 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS112842641 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS112844696 C7 Health Risk Likely pathogenic —
RS112845474 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS112847445 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS112848043 CSRP3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
RS1128501 ABCB1 Health Risk Pathogenic COLCHICINE RESISTANCE, COLCHICINE RESISTANCE
RS112850769 COL7A1 Health Risk Likely pathogenic Transient bullous dermolysis of the newborn, Transient bullous dermolysis of the newborn
RS112850896 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, Melanoma
RS112851814 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS112858705 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS112861184 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Connective tissue disorder
RS112865045 MYL2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 10
RS112870015 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS112871383 WFS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Wolfram syndrome 1
RS112872760 PAX8 Health Risk Conflicting classifications of pathogenicity Hypothyroidism, congenital
RS112875740 COL10A1 Health Risk Conflicting classifications of pathogenicity —
RS112879398 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS112879651 IL1RN Health Risk Likely pathogenic —
RS112882351 MMAA Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblA type
RS112882527 KIF15 Health Risk Conflicting classifications of pathogenicity —
RS112882610 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS112883709 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, PRF1-related disorder
RS112884419 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS112885324 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS112885589 PYCR2 Health Risk Conflicting classifications of pathogenicity —
RS112885646 CRB2 Health Risk Likely pathogenic CRB2-related disorder, CRB2-related disorder
RS112887300 VTN Health Risk Conflicting classifications of pathogenicity VTN-related disorder, VTN-related disorder
RS112892337 ZFAT Health Risk Conflicting classifications of pathogenicity —
RS112892548 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS112896925 RAD54L Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS112900950 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Connective tissue disorder
RS112901682 ACTA2 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 6
RS112902065 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS112903432 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS112907302 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112910027 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS112910630 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS112911055 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS112911555 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112913957 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS112914470 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS112914907 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS112915100 PRKCSH Health Risk Likely pathogenic Polycystic liver disease 1, Polycystic liver disease 1
RS112917345 MYBPC3 Health Risk Pathogenic Cardiovascular phenotype, Cardiomyopathy
RS112919437 ACTA1 Health Risk Likely pathogenic —
RS112926956 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS112929734 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS112930491 FBN1 Health Risk Pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome
RS112933248 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS112933443 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS112940737 CHRND;CHRNG Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Autosomal recessive multiple pterygium syndrome
RS112941619 FLNC Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS112942586 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS112943706 IL10RB Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 25, Hepatitis B virus
RS112945086 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS112946633 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS112948385 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS112948607 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS112949559 KATNIP Health Risk Conflicting classifications of pathogenicity —
RS112950994 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS112951498 NSUN2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 5
RS112952572 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS112954220 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS112958283 PALM2AKAP2 Health Risk Conflicting classifications of pathogenicity —
RS112967046 WFS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Wolfram syndrome 1
RS112972846 ENG Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Nonpapillary renal cell carcinoma
RS112976233 SPATA7 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 3, Retinitis pigmentosa
RS112977174 CYP11A1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS112977278 C3 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Complement component 3 deficiency
RS112978510 RBFOX3 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, RBFOX3-related disorder
RS112978778 VWF Health Risk Likely pathogenic —
RS112982005 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS112983641 VPS13D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS112986541 SMARCD2 Health Risk Likely pathogenic Specific granule deficiency 2, Specific granule deficiency 2
RS112986697 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS112987826 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS112988476 LAMB3 Health Risk Likely pathogenic Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A
RS112989722 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS112990531 MYH11 Health Risk Conflicting classifications of pathogenicity Familial aortopathy, Familial thoracic aortic aneurysm and aortic dissection
RS112990855 ELANE Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS112991916 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS112994296 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder
RS112994383 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS112994687 DNAAF19 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 17
RS112996548 C3 Health Risk Pathogenic C3 DEFICIENCY, Complement component 3 deficiency
RS112997540 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS112998985 RRAGD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS112999777 MYBPC3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS113001196 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
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