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
RS753530965 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS753531268 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS753531562 AEBP1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS753533374 TBL1XR1 Health Risk Conflicting classifications of pathogenicity Pierpont syndrome, Inborn genetic diseases
RS753533515 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS753534837 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS753535530 MCPH1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive primary microcephaly, Microcephaly 1
RS753535745 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS753535989 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS75353611 ALB Health Risk Pathogenic Alloalbuminemia, Alloalbuminemia
RS753536984 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS753537518 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS753537901 APTX Health Risk Conflicting classifications of pathogenicity —
RS753538619 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS753540191 CNGA3 Health Risk Pathogenic —
RS753540389 RAI1 Health Risk Pathogenic —
RS753541585 ADD3 Health Risk Conflicting classifications of pathogenicity —
RS753542290 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS75354240 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS753542650 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753543276 MARVELD2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
RS753543659 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS753545038 PREPL Health Risk Likely pathogenic Myasthenic syndrome, congenital
RS753545181 PHOX2B Health Risk Pathogenic/Likely pathogenic Haddad syndrome, Hereditary cancer-predisposing syndrome
RS753545284 BRAF Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS753545653 KIAA0753 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753546095 TTN Health Risk Conflicting classifications of pathogenicity —
RS753546269 MASP1 Health Risk Conflicting classifications of pathogenicity 3MC syndrome 1, 3MC syndrome 1
RS753546556 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS753546575 TTN Health Risk Conflicting classifications of pathogenicity —
RS753547381 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS753547956 SCP2 Health Risk Conflicting classifications of pathogenicity SCP2-related disorder, SCP2-related disorder
RS753549113 LRP2 Health Risk Pathogenic/Likely pathogenic LRP2-related disorder, LRP2-related disorder
RS753549769 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS753549939 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS753550369 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS753551959 NFIB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753552530 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS753554501 SDHAF2 Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS753554545 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin
RS753554915 PET100 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 12
RS753555602 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS753556902 LSM7 Health Risk Likely pathogenic In utero death, Joubert syndrome 36
RS753556936 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS753557069 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS753557181 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS753557738 ECHS1 Health Risk Pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS753558336 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, MYO5B-related disorder
RS753559567 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHD7-related disorder
RS753561422 CYP4V2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS753562212 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS753562279 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753562327 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS753564352 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS753570450 GCH1 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5
RS753570551 DNAJB2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS753571180 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS753573139 LEPR Health Risk Conflicting classifications of pathogenicity Obesity due to leptin receptor gene deficiency, LEPR-related disorder
RS753573260 SRPX2 Health Risk Conflicting classifications of pathogenicity Rolandic epilepsy, intellectual disability
RS753573633 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS753574354 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 2
RS753574461 TMPRSS15 Health Risk Likely pathogenic TMPRSS15-related disorder, Enterokinase deficiency
RS753575587 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS753575634 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS753578157 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS753579122 RAX Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 3, Isolated microphthalmia 3
RS753579827 CEP63 Health Risk Likely pathogenic Seckel syndrome 6, Seckel syndrome 6
RS753580324 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS753580394 CCDC39 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Respiratory ciliopathies including non-CF bronchiectasis
RS753581033 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS753581649 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS753584634 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS753585568 MYO18B Health Risk Pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS753586099 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS753586235 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS753587518 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS753587914 TAF4 Health Risk Pathogenic Intellectual developmental disorder, autosomal dominant 73
RS753588255 AGRN Health Risk Likely pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS753588351 ADSS1 Health Risk Conflicting classifications of pathogenicity Myopathy, distal
RS753589550 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS753590871 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753591187 PDZD7 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS753591292 DUOX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS75359153 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS753591663 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS753591839 CYP1B1 Health Risk Pathogenic/Likely pathogenic Anterior segment dysgenesis 6, Congenital glaucoma
RS753591864 AMPD2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 9, Pontoneocerebellar hypoplasia
RS753593088 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS753593714 SPTB Health Risk Conflicting classifications of pathogenicity —
RS753593981 RECQL4 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS753594031 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS753594128 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS753594462 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2A
RS753594556 LCA5 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS753594601 B4GALT7 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome
RS753594918 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS753595274 NDUFAF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753595466 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753595587 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, PCCA-related disorder
RS753595762 COL11A2 Health Risk Conflicting classifications of pathogenicity —
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