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
RS1879953298 MED13L Health Risk Pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS1879959408 MED13L Health Risk Pathogenic —
RS187996451 SLC6A17 Health Risk Conflicting classifications of pathogenicity Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome, Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
RS187997427 POLR1C Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 3, Treacher Collins syndrome 3
RS187997925 LAMA3 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa, junctional 2A
RS187998469 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Retinal dystrophy
RS1879993052 ATP2B1 Health Risk Likely pathogenic Neurodevelopmental disorder, Intellectual developmental disorder
RS1879993574 ATP2B1 Health Risk Pathogenic —
RS188006077 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS188011013 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1880117720 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Inborn genetic diseases
RS188012906 TTN Health Risk Conflicting classifications of pathogenicity —
RS1880141601 PAX1 Health Risk Pathogenic —
RS188017299 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS188017433 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS188018643 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS188019153 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS188020393 NIPAL4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 6, NIPAL4-related disorder
RS188031069 GORAB Health Risk Conflicting classifications of pathogenicity Geroderma osteodysplastica, Geroderma osteodysplastica
RS188044385 STAR Health Risk Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS188045535 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS188046704 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS1880497383 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1880548859 COL4A2 Health Risk Pathogenic/Likely pathogenic Porencephaly 2, Porencephaly 2
RS188055173 DRC1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Inborn genetic diseases
RS1880565276 PRKD1 Health Risk Conflicting classifications of pathogenicity —
RS188057926 POLR1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS188058983 ABCA13 Health Risk Conflicting classifications of pathogenicity ABCA13-related disorder, ABCA13-related disorder
RS188059075 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1880611671 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS188061266 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS188063446 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS188066525 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS188069926 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS1880707874 POC1B Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 20, Cone-rod dystrophy 20
RS188071134 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1880737834 TPP2 Health Risk Pathogenic Immunodeficiency 78 with autoimmunity and developmental delay, Immunodeficiency 78 with autoimmunity and developmental delay
RS188075767 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS188081246 TBCD Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS188085072 TMIE Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6
RS188085399 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1880871690 COL4A2 Health Risk Pathogenic —
RS188092863 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS188093810 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa
RS188094280 ACADSB Health Risk Pathogenic/Likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Sarcoma
RS188098974 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS188099735 KLHL33 Health Risk Conflicting classifications of pathogenicity —
RS1880999471 RPGRIP1 Health Risk Likely pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS1881002905 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS188101277 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS188105111 VIPAS39 Health Risk Conflicting classifications of pathogenicity —
RS1881066035 KCNC2 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS1881066861 KCNC2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
RS1881068627 NKX2-1 Health Risk Pathogenic Benign hereditary chorea, Benign hereditary chorea
RS1881077003 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS188108571 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1881107186 NKX2-1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Brain-lung-thyroid syndrome
RS1881114341 NKX2-1 Health Risk Likely pathogenic Brain-lung-thyroid syndrome, NKX2-1-related disorder
RS1881122726 NKX2-1;SFTA3 Health Risk Pathogenic —
RS1881125294 RPGRIP1 Health Risk Pathogenic —
RS188113889 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS188119157 LOXHD1 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 77
RS1881204497 NKX2-1;SFTA3 Health Risk Pathogenic Benign hereditary chorea, Benign hereditary chorea
RS188120737 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1881214272 NKX2-1 Health Risk Pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS1881216647 OSGEP Health Risk Likely pathogenic Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3
RS1881219252 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Abnormality of the musculature
RS1881225977 NKX2-1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS188124424 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype
RS188126059 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1881282106 WASHC4 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 43
RS1881285635 NKX2-1 Health Risk Pathogenic/Likely pathogenic —
RS188133840 GABRA1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS1881341880 PAX9 Health Risk Pathogenic Oligodontia, Oligodontia
RS1881345182 PAX9 Health Risk Pathogenic Tooth agenesis, selective
RS1881346298 PAX9 Health Risk Likely pathogenic Tooth agenesis, selective
RS188135164 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1881355965 PAX9 Health Risk Pathogenic Hypodontia, Hypodontia
RS1881356852 PAX9 Health Risk Pathogenic —
RS188138723 TPI1 Health Risk Conflicting classifications of pathogenicity Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
RS188140291 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS188140481 - Health Risk association Familial prostate cancer, Familial prostate cancer
RS1881423 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS188145203 SCN9A Health Risk Conflicting classifications of pathogenicity Primary erythromelalgia, Channelopathy-associated congenital insensitivity to pain
RS188146577 SYNE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive ataxia
RS188146580 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS188149266 LAMC2 Health Risk Conflicting classifications of pathogenicity —
RS188150039 ANO5 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS188154693 NBAS Health Risk Likely pathogenic —
RS188158548 MAP3K20 Health Risk Conflicting classifications of pathogenicity —
RS188159332 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, ANK3-related disorder
RS188164241 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Joubert syndrome
RS1881779084 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS1881780569 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS1881788747 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS188178946 CC2D1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1881793162 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1881802605 FOXG1 Health Risk Pathogenic/Likely pathogenic FOXG1 disorder, Rett syndrome
RS1881803464 FOXG1 Health Risk Likely pathogenic Inborn genetic diseases, FOXG1 disorder
RS1881804364 FOXG1 Health Risk Pathogenic/Likely pathogenic FOXG1 disorder, FOXG1 disorder
« Prev 1 ... 1304 1305 1306 1307 1308 1309 1310 ... 4509 Next »

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

Get Started Free →