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
RS1057518293 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1057518295 RERE Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without anomalies of the brain, eye
RS1057518297 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1057518298 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS1057518299 SLC13A5 Health Risk Pathogenic —
RS1057518301 CACNA1C Health Risk Conflicting classifications of pathogenicity Timothy syndrome, Long QT syndrome
RS1057518303 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS1057518309 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1057518312 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1057518318 ARID1B Health Risk Likely pathogenic —
RS1057518321 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1057518322 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS1057518325 SCN1A Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1057518326 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1057518327 SLC26A2 Health Risk Likely pathogenic —
RS1057518331 STXBP1 Health Risk Pathogenic —
RS1057518332 TBCK Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS1057518333 SIM1 Health Risk Likely pathogenic Brachydactyly, Brachydactyly
RS1057518336 LZTR1 Health Risk Likely pathogenic —
RS1057518337 PHIP Health Risk Likely pathogenic —
RS1057518339 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1057518341 ASNS Health Risk Likely pathogenic —
RS1057518344 SGCE Health Risk Pathogenic —
RS1057518345 ADNP Health Risk Pathogenic Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1057518348 PHEX Health Risk Pathogenic —
RS1057518352 SYNGAP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 5
RS1057518353 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS1057518354 BPTF Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS1057518356 SCN8A Health Risk Likely pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1057518360 NF1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1057518362 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1057518367 RASA1 Health Risk Likely pathogenic —
RS1057518368 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1057518370 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS1057518371 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS1057518372 COL3A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1057518373 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS1057518377 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1057518379 NEK9 Health Risk Likely pathogenic —
RS1057518385 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS1057518387 ARID1B Health Risk Pathogenic —
RS1057518388 MFSD8 Health Risk Likely pathogenic Late-infantile neuronal ceroid lipofuscinosis, Late-infantile neuronal ceroid lipofuscinosis
RS1057518389 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS1057518390 GALC Health Risk Pathogenic —
RS1057518391 MMP13 Health Risk Likely pathogenic —
RS1057518398 MYH2 Health Risk Pathogenic/Likely pathogenic Myopathy, proximal
RS1057518399 TP63 Health Risk Likely pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1057518400 PTCH1 Health Risk Pathogenic/Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1057518408 ACADM Health Risk Likely pathogenic —
RS1057518410 SETD2 Health Risk Pathogenic Neoplasm, Neoplasm
RS1057518411 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1057518412 TUBB Health Risk Likely pathogenic —
RS1057518414 SMARCA2 Health Risk Pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS1057518416 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, Thyroid cancer
RS1057518419 SOX9 Health Risk Likely pathogenic —
RS1057518420 CACNA2D2 Health Risk Pathogenic —
RS1057518422 TAB2 Health Risk Pathogenic/Likely pathogenic Atrial septal defect, ostium secundum type
RS1057518424 MED13L Health Risk Pathogenic —
RS1057518425 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Glioma susceptibility 2
RS1057518437 TAB2 Health Risk Pathogenic —
RS1057518440 GNAO1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 17
RS1057518444 FBN1 Health Risk Likely pathogenic —
RS1057518448 TSC2 Health Risk Pathogenic —
RS1057518457 ATP2A2 Health Risk Likely pathogenic —
RS1057518458 ASXL1 Health Risk Pathogenic —
RS1057518470 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1057518472 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057518474 DYRK1A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1057518475 NF1 Health Risk Pathogenic —
RS1057518476 NONO Health Risk Pathogenic —
RS1057518477 TSPAN12 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS1057518479 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Melnick-Needles syndrome
RS1057518487 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1057518489 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS1057518492 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1057518493 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1057518496 SATB2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1057518498 CREBBP Health Risk Likely pathogenic —
RS1057518500 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS1057518506 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1057518508 TSC2 Health Risk Pathogenic —
RS1057518511 BAG3 Health Risk Pathogenic/Likely pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS1057518513 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1057518514 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS1057518520 GRIN2B Health Risk Likely pathogenic —
RS1057518526 OFD1 Health Risk Pathogenic —
RS1057518529 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1057518535 TSC2 Health Risk Pathogenic —
RS1057518541 ALDH18A1 Health Risk Likely pathogenic —
RS1057518543 KAT6A Health Risk Pathogenic —
RS1057518544 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1057518554 FBN1 Health Risk Pathogenic —
RS1057518555 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS1057518558 SMARCA2 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS1057518560 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1057518567 MBD5 Health Risk Likely pathogenic —
RS1057518568 MECP2 Health Risk Likely pathogenic —
RS1057518571 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1057518572 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1057518574 CYP19A1 Health Risk Likely pathogenic —
« Prev 1 ... 60 61 62 63 64 65 66 ... 4509 Next »

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

Get Started Free →