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
RS753336580 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS753338285 RFXANK Health Risk Pathogenic/Likely pathogenic MHC class II deficiency, MHC class II deficiency 2
RS753338844 MKKS Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome
RS753338851 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Inborn genetic diseases
RS753339980 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS753340395 B3GALNT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS753342253 WNK1 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2C, Neuropathy
RS753342774 COL2A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome type 1, Type 2 collagenopathy
RS753344266 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS753344588 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS753344875 HBB Health Risk Conflicting classifications of pathogenicity —
RS753344909 RFT1 Health Risk Likely pathogenic —
RS753344988 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS753345092 SLFN14 Health Risk Conflicting classifications of pathogenicity —
RS753345594 MRPS22 Health Risk Conflicting classifications of pathogenicity Ovarian dysgenesis 7, 46 XX gonadal dysgenesis
RS753346459 NT5C3A Health Risk Pathogenic Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
RS753347128 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS753347885 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS753347937 LZTR1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome 2, Hereditary cancer-predisposing syndrome
RS753348470 INVS Health Risk Pathogenic Infantile nephronophthisis, Nephronophthisis
RS753348565 APOA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS753350404 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS753350587 PTHLH Health Risk Conflicting classifications of pathogenicity —
RS753351853 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS753352064 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS753352530 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753353134 CNGB1 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 45
RS753355121 FKBP14 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type
RS753355735 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS753355844 HGSNAT Health Risk Conflicting classifications of pathogenicity Sanfilippo syndrome, Mucopolysaccharidosis
RS753356298 TRPM1 Health Risk Pathogenic —
RS753356474 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS753356694 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
RS753357599 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, Autosomal dominant distal renal tubular acidosis
RS753357981 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753358186 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS753358728 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753360208 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS753360358 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753360364 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS753360539 PLOD3 Health Risk Likely pathogenic Bone fragility with contractures, arterial rupture
RS753360928 HSD17B3 Health Risk Pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS753360929 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS753363173 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Inborn genetic diseases
RS753363278 ETFA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753365638 GSDME Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 5
RS753367709 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS753367747 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753368389 DLG3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753368984 COL7A1 Health Risk Likely pathogenic COL7A1-related disorder, COL7A1-related disorder
RS753369354 TGFBR2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Diabetic retinopathy
RS753370104 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS753372521 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753374676 DNAJC12 Health Risk Pathogenic/Likely pathogenic —
RS753374697 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS753374839 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Isolated focal cortical dysplasia type II
RS753375022 TTN Health Risk Conflicting classifications of pathogenicity —
RS753375023 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS753375900 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS753376100 PANK2 Health Risk Pathogenic Neurodegeneration, Hypoprebetalipoproteinemia
RS753376558 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS753378097 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS753378940 RDH5 Health Risk Pathogenic Retinitis punctata albescens, Retinitis punctata albescens
RS75338000 MEI1 Health Risk Likely pathogenic Hydatidiform mole, recurrent
RS753380675 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS753381949 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS753382007 NGF Health Risk Pathogenic Congenital sensory neuropathy with selective loss of small myelinated fibers, Congenital sensory neuropathy with selective loss of small myelinated fibers
RS753382639 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS753383257 HPDL Health Risk Likely pathogenic —
RS753383954 IFIH1 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS753384336 TYR Health Risk Likely pathogenic —
RS753385776 PIGW Health Risk Conflicting classifications of pathogenicity Global developmental delay, Cleft palate
RS753386543 PTRHD1 Health Risk Pathogenic Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
RS753386843 TWNK Health Risk Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia
RS753386861 NPR3 Health Risk Pathogenic Boudin-Mortier syndrome, Boudin-Mortier syndrome
RS753389458 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS753390261 FKRP Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS753390602 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS753392379 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS753392428 MYO18B Health Risk Pathogenic —
RS753392528 FBXO7 Health Risk Pathogenic Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS753392652 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS753392867 CTU2 Health Risk Conflicting classifications of pathogenicity —
RS753393344 RAD51B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753394912 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS753395114 MECOM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753396304 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, CNTNAP2-related disorder
RS753396472 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS753397171 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Inborn genetic diseases
RS753397685 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753398300 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Inborn genetic diseases
RS753398503 INPP5E Health Risk Pathogenic Joubert syndrome, INPP5E-related disorder
RS753398539 SI Health Risk Pathogenic —
RS753398573 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS753400880 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS753401796 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS753402698 DNM2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B
RS753403788 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS753403833 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS753403940 WAC Health Risk Likely pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
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