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
RS1301197571 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1301198698 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1301200599 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS1301223664 ABCA3 Health Risk Likely pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS1301227852 BSND Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1301228529 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1301235105 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS1301268055 PLOD1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1301275168 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS1301279979 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS1301292668 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1301294410 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1301322622 EP300 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, EP300-related disorder
RS1301328139 ZNF292 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Intellectual disability
RS1301330402 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1301344134 ELP1 Health Risk Pathogenic/Likely pathogenic Medulloblastoma, Familial dysautonomia
RS1301351856 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS1301378192 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS1301394543 MYO15A Health Risk Pathogenic —
RS1301396112 BEST1 Health Risk Likely pathogenic —
RS1301397800 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS1301400509 PRRT2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1301441435 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1301458707 LDLR Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS1301470194 EYS Health Risk Likely pathogenic —
RS1301484227 COL4A5 Health Risk Likely pathogenic —
RS1301501264 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1301516107 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1301522020 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS1301524707 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1301539761 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS1301544231 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, Inborn genetic diseases
RS1301547272 PTCD3 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 51, Combined oxidative phosphorylation deficiency 51
RS1301584371 COL6A3 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1301600876 F8 Health Risk Likely pathogenic F8-related disorder, F8-related disorder
RS1301613270 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS1301615993 KARS1 Health Risk Likely pathogenic —
RS1301618072 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1301632648 CSNK2A1 Health Risk Pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS1301635320 SOD1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS1301635888 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1301641750 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS1301652826 PCSK1 Health Risk Likely pathogenic Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency
RS1301659851 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1301664794 MAPKBP1 Health Risk Likely pathogenic —
RS1301666663 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1301696262 COL4A3 Health Risk Likely pathogenic COL4A3-related disorder, COL4A3-related disorder
RS1301700806 TMPRSS3 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS1301704156 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1301705612 NEK1 Health Risk Conflicting classifications of pathogenicity Type IV short rib polydactyly syndrome, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1301706601 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1301718118 DUOX2 Health Risk Pathogenic —
RS1301743166 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1301750241 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1301751251 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS1301762186 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1301770111 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1301795658 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1301816028 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS1301819180 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS1301821497 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Inborn genetic diseases
RS1301842578 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1301849220 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS1301850403 GNPTG Health Risk Likely pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS1301852124 NEU1 Health Risk Pathogenic Sialidosis type 2, Sialidosis type 2
RS1301855639 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1301870356 CABP2 Health Risk Likely pathogenic —
RS1301870550 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1301873688 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1301876154 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1301895052 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1301895668 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1301901369 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1301902450 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1301904623 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1301915378 MPDZ Health Risk Likely pathogenic —
RS1301940016 DPAGT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation
RS1301940236 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1301948344 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1301955422 MMP13 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Missouri type
RS1301956720 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS13019803 IL1R1 Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS1301982277 LPIN1 Health Risk Likely pathogenic —
RS1301983423 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1301992983 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS1302011604 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1302020618 UNG Health Risk Pathogenic Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS1302034044 SZT2 Health Risk Pathogenic See cases, Developmental and epileptic encephalopathy
RS1302048506 HCN4 Health Risk Conflicting classifications of pathogenicity Sick sinus syndrome 2, autosomal dominant
RS1302054606 PHGDH Health Risk Likely pathogenic PHGDH deficiency, PHGDH deficiency
RS1302055573 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1302074641 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1302075903 TMEM107 Health Risk Pathogenic —
RS1302076437 KISS1R Health Risk Likely pathogenic Pituitary stalk interruption syndrome, Pituitary stalk interruption syndrome
RS1302083447 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1302089144 PROS1 Health Risk Pathogenic Protein S deficiency disease, Protein S deficiency disease
RS1302101551 MMP9 Health Risk Pathogenic Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
RS1302114356 ELP1 Health Risk Pathogenic/Likely pathogenic Familial dysautonomia, Medulloblastoma
RS1302123106 NFKB1 Health Risk Pathogenic —
RS1302125467 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
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