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
RS886044143 FOXC1 Health Risk Pathogenic —
RS886044144 FRAS1 Health Risk Conflicting classifications of pathogenicity —
RS886044146 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS886044148 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS886044149 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 25
RS886044151 COL2A1 Health Risk Pathogenic —
RS886044152 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS886044153 TERT Health Risk Conflicting classifications of pathogenicity 7 conditions, Idiopathic Pulmonary Fibrosis
RS886044155 SYNE1 Health Risk Likely pathogenic —
RS886044156 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS886044161 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS886044166 PCDH19 Health Risk Pathogenic —
RS886044168 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS886044178 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS886044183 FKRP Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS886044193 DMD Health Risk Pathogenic —
RS886044196 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS886044197 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Cardiovascular phenotype
RS886044207 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS886044211 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886044212 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS886044215 COL6A2 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, COL6A2-related disorder
RS886044220 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS886044221 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS886044223 PAX6 Health Risk Conflicting classifications of pathogenicity Aniridia 1, Irido-corneo-trabecular dysgenesis
RS886044228 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS886044231 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886044233 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS886044237 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS886044238 FHL1 Health Risk Pathogenic/Likely pathogenic Thyroid cancer, nonmedullary
RS886044241 WHRN Health Risk Conflicting classifications of pathogenicity —
RS886044242 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS886044244 COL11A1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Stickler syndrome type 2
RS886044245 COL2A1 Health Risk Pathogenic —
RS886044246 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS886044252 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886044253 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS886044254 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS886044256 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS886044257 SMCHD1 Health Risk Likely pathogenic —
RS886044258 DYSF Health Risk Pathogenic —
RS886044261 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1B
RS886044263 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886044265 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886044267 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS886044268 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886044269 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886044280 MPV17 Health Risk Pathogenic/Likely pathogenic —
RS886044284 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS886044287 SLC2A1 Health Risk Pathogenic —
RS886044289 PAX6 Health Risk Likely pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS886044291 ESCO2 Health Risk Conflicting classifications of pathogenicity —
RS886044292 COL2A1 Health Risk Pathogenic —
RS886044295 CC2D2A Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS886044302 RPGR Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Primary ciliary dyskinesia
RS886044304 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS886044306 TTN Health Risk Conflicting classifications of pathogenicity —
RS886044309 GRHL2 Health Risk Likely pathogenic —
RS886044318 TTN Health Risk Likely pathogenic —
RS886044319 ERCC5 Health Risk Likely pathogenic —
RS886044324 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886044325 DMD Health Risk Pathogenic —
RS886044326 NSD1 Health Risk Pathogenic —
RS886044328 SCN8A Health Risk Conflicting classifications of pathogenicity Cognitive impairment with or without cerebellar ataxia, Developmental and epileptic encephalopathy
RS886044329 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS886044330 LAMA2 Health Risk Pathogenic —
RS886044332 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS886044338 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS886044344 LAMA2 Health Risk Pathogenic —
RS886044345 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886044346 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS886044349 JAG1 Health Risk Pathogenic —
RS886044351 NIPBL Health Risk Pathogenic —
RS886044355 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS886044356 CRPPA Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS886044358 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS886044360 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS886044369 SMCHD1 Health Risk Likely pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886044377 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886044379 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886044380 SYNE1 Health Risk Likely pathogenic —
RS886044381 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy
RS886044386 DYSF Health Risk Pathogenic —
RS886044390 DYSF Health Risk Pathogenic —
RS886044396 ZEB2 Health Risk Likely pathogenic —
RS886044397 CUL7 Health Risk Pathogenic —
RS886044398 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886044399 COL6A2 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886044402 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886044406 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS886044407 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS886044408 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886044409 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS886044410 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS886044411 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS886044414 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886044415 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886044417 CAPN3 Health Risk Pathogenic —
RS886044418 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886044419 SMCHD1 Health Risk Pathogenic —
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