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
RS748262135 PHKB Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS748262140 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS748263197 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS748263306 DSP Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Arrhythmogenic right ventricular dysplasia 8
RS748263327 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS748264993 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia
RS748267258 SCN1A Health Risk Pathogenic Early-infantile DEE, Epileptic encephalopathy
RS748267444 LIPA Health Risk Pathogenic/Likely pathogenic Lysosomal acid lipase deficiency, Wolman disease
RS748268631 LHX4 Health Risk Pathogenic Short stature-pituitary and cerebellar defects-small sella turcica syndrome, Short stature-pituitary and cerebellar defects-small sella turcica syndrome
RS748269732 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS748270262 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS748270285 RFX5 Health Risk Pathogenic MHC class II deficiency 3, MHC class II deficiency 3
RS748270792 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS748272071 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS748273011 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Coffin-Siris syndrome 1
RS74827377 DRAM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748274420 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, ITPR1-related disorder
RS748274524 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS748275416 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS748276210 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Intellectual disability
RS748276504 FN1 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS748277540 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS748277951 STIM1 Health Risk Likely pathogenic Myopathy, tubular aggregate
RS748278337 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS748279299 ITGA6 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS748279875 GNPAT Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS748279911 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS748280232 CTSC Health Risk Conflicting classifications of pathogenicity Haim-Munk syndrome, Papillon-Lefèvre syndrome
RS748280348 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS748280472 KCNV2 Health Risk Pathogenic Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS748282723 JPH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 17
RS748283001 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS748283415 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS748284900 PPIB Health Risk Pathogenic/Likely pathogenic Clear cell carcinoma of kidney, Clear cell carcinoma of kidney
RS748286029 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS748286204 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS748286207 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS748286228 TUBGCP2 Health Risk Conflicting classifications of pathogenicity Pachygyria, microcephaly
RS748286715 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS748286841 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS748287294 OCA2 Health Risk Pathogenic/Likely pathogenic OCA2-related disorder, Oculocutaneous albinism
RS748287435 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS748289202 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS748289906 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4B, Congenital myasthenic syndrome 4A
RS748289922 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS748289963 CD36 Health Risk Likely pathogenic Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS748290896 CYP21A2 Health Risk Pathogenic CYP21A2-related disorder, CYP21A2-related disorder
RS748292845 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS748292862 TOR1A Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Inborn genetic diseases
RS748293490 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS748294033 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS748294403 CTNNB1 Health Risk Pathogenic/Likely pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Global developmental delay
RS748296558 RAG1 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS748297201 F13B Health Risk Pathogenic Factor XIII, b subunit
RS748297852 RAB28 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 18, Cone-rod dystrophy 18
RS748299996 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder, complementation group 7
RS748300548 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS748302876 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS748302886 TBC1D24 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 65, Inborn genetic diseases
RS748303070 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS748303093 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS748303654 P3H2 Health Risk Pathogenic —
RS748304578 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS748304927 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS748305297 DNAH3 Health Risk Likely pathogenic Spermatogenic failure 18, Spermatogenic failure 18
RS748306088 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS748306486 SYNE1 Health Risk Likely pathogenic —
RS748306602 C8A Health Risk Pathogenic/Likely pathogenic Type I complement component 8 deficiency, Type I complement component 8 deficiency
RS74830677 SCARB1 Health Risk Conflicting classifications of pathogenicity HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6, SCARB1-related disorder
RS748306987 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Inborn genetic diseases
RS748307129 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS748307861 PDYN Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS748309027 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS748309520 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS748309662 IL2RB Health Risk Conflicting classifications of pathogenicity —
RS748309986 TG Health Risk Pathogenic —
RS748310171 EFEMP1 Health Risk Conflicting classifications of pathogenicity Doyne honeycomb retinal dystrophy, Inborn genetic diseases
RS748310274 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases
RS748310345 PNPLA1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
RS748311799 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS748311841 APOB Health Risk Pathogenic —
RS748312411 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS748312802 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiac arrhythmia
RS748313252 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS748313429 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Complement component 3 deficiency
RS748313513 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS748314396 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS748314906 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS748315186 COL11A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS748315431 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS748316978 KDM3B Health Risk Conflicting classifications of pathogenicity Diets-Jongmans syndrome, Inborn genetic diseases
RS748317115 KMT2D Health Risk Conflicting classifications of pathogenicity Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, Kabuki syndrome 1
RS748318386 AUH Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, 3-methylglutaconic aciduria type 1
RS748318462 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS748318755 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS748318874 EIF2AK3 Health Risk Pathogenic/Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS748320350 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Inborn genetic diseases
RS748320500 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS748320873 SIX5 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
RS748320904 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
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