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
RS541264551 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS541266544 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS541268108 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS541269643 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS541269678 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS541271992 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS541276426 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrullinemia, type II
RS541299023 GUCY2D Health Risk Pathogenic —
RS541299207 SPEG Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS541311313 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHARGE syndrome
RS541315214 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS541318695 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS541325052 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS541334347 OTOF Health Risk Conflicting classifications of pathogenicity —
RS541335259 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS541336434 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS541337893 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS541347122 SLC9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS541349898 TMEM231 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 20, Meckel syndrome
RS541354758 EPAS1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS541367417 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS541372136 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS541385523 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS541385700 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS541400148 TTLL5 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS541400419 DHPS Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with seizures and speech and walking impairment, Neurodevelopmental disorder with seizures and speech and walking impairment
RS541404259 CRBN Health Risk Conflicting classifications of pathogenicity CRBN-related disorder, Intellectual disability
RS541405891 IL2RB Health Risk Conflicting classifications of pathogenicity —
RS541408630 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS541432320 SPINK5 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, SPINK5-related disorder
RS541444392 MRPS2 Health Risk Conflicting classifications of pathogenicity MRPS2-related disorder, MRPS2-related disorder
RS541449814 SCNN1B Health Risk Conflicting classifications of pathogenicity Liddle syndrome 1, Pseudohypoaldosteronism
RS541454864 RPL35A Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 5, Diamond-Blackfan anemia
RS541455377 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Ovarian cancer
RS541455903 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS541474497 ATP8B1 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS541476418 MEN1 Health Risk Conflicting classifications of pathogenicity Hyperparathyroidism, Hereditary cancer-predisposing syndrome
RS541483366 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS541484241 SPTBN2 Health Risk Likely pathogenic Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5
RS541487561 SUN1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS541487979 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS541493300 KMT2E Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS541497967 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS541501285 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia, Hereditary spherocytosis type 4
RS541503410 DNAJC21 Health Risk Conflicting classifications of pathogenicity —
RS541509761 AGBL5 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS541512953 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS541513836 FLNB Health Risk Pathogenic —
RS541516452 RARS2 Health Risk Conflicting classifications of pathogenicity —
RS541517496 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS541518120 MALT1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to MALT1 deficiency, Inborn genetic diseases
RS541519365 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS541524392 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease 2
RS541527476 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS541533723 HTRA1 Health Risk Conflicting classifications of pathogenicity —
RS541534183 EP400 Health Risk Conflicting classifications of pathogenicity —
RS541538556 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS541541250 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42
RS541549782 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Inborn genetic diseases
RS541552030 PKD1 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS541554381 YARS2 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS541556786 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Legius syndrome
RS541559170 ALMS1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Alstrom syndrome
RS541570752 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS541576664 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS541585714 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS541587196 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Benign neonatal seizures
RS541587321 ACADS Health Risk Pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS541591704 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS541592631 TYMP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS541593593 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS541594122 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS541594934 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-related disorder, Inborn genetic diseases
RS541595707 SERPINH1 Health Risk Conflicting classifications of pathogenicity —
RS541597520 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS541606391 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease
RS541606785 MAGEL2 Health Risk Conflicting classifications of pathogenicity Prader-Willi syndrome, Schaaf-Yang syndrome
RS541612157 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial hypertrophic 27
RS541623924 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS541632286 NARS2 Health Risk Likely pathogenic —
RS541633673 NALCN Health Risk Pathogenic/Likely pathogenic See cases, Congenital contractures of the limbs and face
RS541636141 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS541641039 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS541642189 DGUOK Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
RS541644361 SOS1 Health Risk Conflicting classifications of pathogenicity Fibromatosis, gingival
RS541660707 VRK1 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1A, Congenital pontocerebellar hypoplasia type 1
RS541663451 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS541669781 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS541672313 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS541676352 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS541678072 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS541684918 FOXRED1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS541693633 DAW1 Health Risk Pathogenic Primary ciliary dyskinesia, Ciliary dyskinesia
RS541703064 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS541708867 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS541711765 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS541714751 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases
RS541717028 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS541732593 ITGA2 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 9, ITGA2-related disorder
RS541746987 TRPV3 Health Risk Conflicting classifications of pathogenicity —
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