SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1131691254 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1131691258 GJB1 Health Risk Pathogenic —
RS1131691259 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS1131691262 ABCA4 Health Risk Likely pathogenic —
RS1131691263 LMNA Health Risk Likely pathogenic Limb-girdle muscular dystrophy, Limb-girdle muscular dystrophy
RS1131691266 PPP2R5D Health Risk Pathogenic/Likely pathogenic Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1
RS1131691267 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1131691268 GRIN2B Health Risk Pathogenic —
RS1131691276 AHDC1 Health Risk Pathogenic —
RS1131691279 CEP120 Health Risk Likely pathogenic —
RS1131691280 CEP120 Health Risk Likely pathogenic —
RS1131691281 ADNP Health Risk Pathogenic —
RS1131691283 CTCF Health Risk Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related disorder
RS1131691284 RTTN Health Risk Pathogenic/Likely pathogenic Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS1131691285 WWOX Health Risk Likely pathogenic Malignant tumor of esophagus, Malignant tumor of esophagus
RS1131691286 ACVRL1 Health Risk Likely pathogenic —
RS1131691287 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1131691288 TTN Health Risk Conflicting classifications of pathogenicity —
RS1131691292 DMD Health Risk Pathogenic —
RS1131691293 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1131691295 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS1131691296 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS1131691298 NLRP3 Health Risk Pathogenic —
RS1131691299 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS1131691302 SLC6A1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental delay, Epilepsy with myoclonic atonic seizures
RS1131691304 LBR Health Risk Conflicting classifications of pathogenicity RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY, RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY
RS1131691305 RIGI Health Risk Likely pathogenic —
RS1131691307 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS1131691309 ZEB2 Health Risk Pathogenic —
RS1131691311 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS1131691312 CCM2 Health Risk Pathogenic —
RS1131691314 DDX3X Health Risk Pathogenic —
RS1131691316 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS1131691317 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1131691318 TUBA1A Health Risk Conflicting classifications of pathogenicity Tubulinopathy, Tubulinopathy
RS1131691319 GCDH Health Risk Likely pathogenic —
RS1131691320 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1131691321 NSD1 Health Risk Likely pathogenic —
RS1131691322 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1131691326 CREBBP Health Risk Pathogenic Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome
RS1131691327 SCN8A Health Risk Likely pathogenic —
RS1131691329 TBCK Health Risk Pathogenic Hypotonia, infantile
RS1131691330 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS1131691331 EPM2A Health Risk Likely pathogenic Lafora disease, Lafora disease
RS1131691334 TBXA2R Health Risk Likely pathogenic —
RS1131691336 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1131691337 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Multiple congenital exostosis
RS1131691339 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Inborn genetic diseases
RS1131691341 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS1131691342 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1131691345 THAP1 Health Risk Pathogenic/Likely pathogenic Torsion dystonia 6, Torsion dystonia 6
RS1131691346 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1131691347 BICD2 Health Risk Pathogenic/Likely pathogenic Spinal muscular atrophy, lower extremity-predominant
RS1131691348 HADHA Health Risk Likely pathogenic —
RS1131691349 TUBA1A Health Risk Likely pathogenic Tubulinopathy, Tubulinopathy
RS1131691354 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS1131691355 ATP2C1 Health Risk Pathogenic —
RS1131691356 KCNQ2 Health Risk Likely pathogenic —
RS1131691361 SCN2A Health Risk Pathogenic —
RS1131691362 PCDH19 Health Risk Likely pathogenic —
RS1131691365 KMT2A Health Risk Likely pathogenic —
RS1131691367 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1131691368 TREX1 Health Risk Likely pathogenic —
RS1131691369 SMARCA2 Health Risk Likely pathogenic —
RS1131691370 ACTN2 Health Risk Likely pathogenic —
RS1131691371 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1131691372 ALPL Health Risk Conflicting classifications of pathogenicity —
RS1131691373 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1131691374 CACNA1A Health Risk Pathogenic —
RS1131691377 STAT3 Health Risk Likely pathogenic —
RS1131691378 PRPH2 Health Risk Likely pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS113169138 MLPH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1131691380 RS1 Health Risk Pathogenic/Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS1131691381 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1131691383 TTN Health Risk Pathogenic —
RS1131691385 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS1131691386 MED13L Health Risk Pathogenic —
RS1131691389 BCOR Health Risk Likely pathogenic —
RS1131691396 ATP5F1A Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 22, Combined oxidative phosphorylation deficiency 22
RS1131691399 BCKDHB Health Risk Likely pathogenic —
RS1131691401 CYBB Health Risk Likely pathogenic —
RS1131691405 TAF6 Health Risk Likely pathogenic —
RS1131691414 SCN8A Health Risk Likely pathogenic —
RS1131691416 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Hyperinsulinism due to glucokinase deficiency
RS1131691419 TSC2 Health Risk Pathogenic —
RS1131691420 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1131691421 RBM10 Health Risk Pathogenic Nephroblastoma, Nephroblastoma
RS1131691422 ENG Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1131691426 PAX6 Health Risk Pathogenic —
RS1131691427 HADHB Health Risk Likely pathogenic —
RS1131691428 LYST Health Risk Likely pathogenic —
RS1131691429 PTDSS1 Health Risk Pathogenic/Likely pathogenic Lenz-Majewski hyperostosis syndrome, Lenz-Majewski hyperostosis syndrome
RS1131691430 LIG4 Health Risk Likely pathogenic Inborn genetic diseases, prenatal LIG4 syndrome with aqueductal stenosis
RS1131691432 SMC3 Health Risk Likely pathogenic —
RS1131691433 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1131691434 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS1131691435 SERPINC1 Health Risk Likely pathogenic —
RS1131691436 ATP1A3 Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Dystonia 12
RS1131691438 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1131691440 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
« Prev 1 ... 154 155 156 157 158 159 160 ... 4010 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →