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
RS749875409 TTN Health Risk Conflicting classifications of pathogenicity —
RS749875462 CCDC183 Health Risk Likely pathogenic Essential tremor, Essential tremor
RS749875940 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS749876066 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS749876595 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS749876758 MOCS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749877603 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS749878139 ACADSB Health Risk Pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS749878552 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS749879166 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS749880846 SPTA1 Health Risk Likely pathogenic —
RS749882600 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS749883566 CEP250 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy and hearing loss 2, Cone-rod dystrophy and hearing loss 2
RS749884609 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1D
RS749886570 WFS1 Health Risk Likely pathogenic Cataract 41, Cataract 41
RS749888012 TARS1 Health Risk Pathogenic Trichothiodystrophy 7, nonphotosensitive
RS749888464 COL9A2 Health Risk Pathogenic —
RS74988902 ITGA2B Health Risk Conflicting classifications of pathogenicity Glanzmann thrombasthenia, ITGA2B-related disorder
RS749889050 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS749889670 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS749890533 BSCL2 Health Risk Likely pathogenic Congenital generalized lipodystrophy type 2, Charcot-Marie-Tooth disease type 2
RS749890642 TNXB Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype
RS749890843 TIMP3 Health Risk Conflicting classifications of pathogenicity Sorsby fundus dystrophy, Sorsby fundus dystrophy
RS749891007 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS749891873 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS749891883 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS749893268 IRF2BPL Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with regression, abnormal movements
RS749893889 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS749895437 PIGT Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS749895492 TRMU Health Risk Pathogenic/Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS749895856 CPT2 Health Risk Pathogenic/Likely pathogenic 7 conditions, Carnitine palmitoyltransferase II deficiency
RS749896277 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS749896579 NR5A2 Health Risk Conflicting classifications of pathogenicity Premature ovarian failure, Premature ovarian failure
RS749897277 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS749897373 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS749899018 POGZ Health Risk Conflicting classifications of pathogenicity Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS749899964 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS749899995 HOGA1 Health Risk Pathogenic —
RS749900784 GATA3 Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism, deafness
RS749901317 CEP152 Health Risk Pathogenic —
RS749901648 SOX11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Coffin-Siris syndrome
RS749903004 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases
RS749903532 NLRP3 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal dominant 34
RS749903604 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS749903718 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS749907917 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS749908882 NTHL1 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS749908889 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS749909863 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS749910508 WHRN Health Risk Likely pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS749911553 MPI Health Risk Pathogenic/Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS749912295 OTOA Health Risk Conflicting classifications of pathogenicity —
RS749912939 EARS2 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita
RS749913059 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS749913156 GOT1 Health Risk Pathogenic ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF
RS749913488 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS749914804 MCOLN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mucolipidosis type IV
RS749916100 XPNPEP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
RS749917447 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Inborn genetic diseases
RS749918007 ASXL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749920996 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS749921338 PLOD3 Health Risk Pathogenic Bone fragility with contractures, arterial rupture
RS749921940 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS749922503 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS749922511 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS749922789 MSTO1 Health Risk Likely pathogenic Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
RS749925817 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS749925915 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS749926328 CDHR1 Health Risk Pathogenic —
RS749926976 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS749927550 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Neoplasm
RS749927908 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS749929221 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS749929239 ETFA Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2A
RS749929790 MSH3 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS749930261 TRPM1 Health Risk Pathogenic Retinal dystrophy, Congenital stationary night blindness 1C
RS749930577 RYR2 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS749930791 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS749931257 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Brody myopathy
RS749931280 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS749931330 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS749934202 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS749935207 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 8
RS74993523 XYLT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Inborn genetic diseases
RS749935719 ZBTB7A Health Risk Pathogenic Macrocephaly, neurodevelopmental delay
RS749936057 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS749937461 DZIP1L Health Risk Pathogenic —
RS749937487 EPM2A Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
RS749939097 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS749939383 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS749940464 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS749942048 EIF2B4 Health Risk Likely pathogenic —
RS749942439 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS749942462 ARFGEF1 Health Risk Pathogenic Developmental delay, impaired speech
RS749942977 COL4A1 Health Risk Conflicting classifications of pathogenicity —
RS749943475 ABCA4 Health Risk Pathogenic —
RS749943854 KRT4 Health Risk Conflicting classifications of pathogenicity White sponge nevus 1, Inborn genetic diseases
RS749944766 SFXN4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS749946056 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Congenital heart disease
RS749946230 GABRG2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 74
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