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
RS759584387 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS759584440 SOS1 Health Risk Conflicting classifications of pathogenicity Fibromatosis, gingival
RS759584655 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS759585425 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Juvenile myelomonocytic leukemia
RS759585825 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS759585885 GLI2 Health Risk Conflicting classifications of pathogenicity Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS759587265 WDR35 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS759589041 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal disorder
RS759589301 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS759589388 PDE6A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 43
RS759589756 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS759590339 APOL1 Health Risk Conflicting classifications of pathogenicity —
RS759590432 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS759590778 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS759590811 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759591318 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS759591544 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS759592382 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS759593186 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS759593846 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS759594785 SEC24D Health Risk Pathogenic Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2
RS759595432 ADGRE2 Health Risk Conflicting classifications of pathogenicity Vibratory urticaria, Vibratory urticaria
RS759595738 RORB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759597112 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS759597531 SOX9 Health Risk Pathogenic CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
RS759598033 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS759598868 PRPF8 Health Risk Conflicting classifications of pathogenicity —
RS759599321 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS759600553 ACAD8 Health Risk Pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS759601398 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS759603306 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS759603316 TWNK Health Risk Conflicting classifications of pathogenicity Perrault syndrome 5, Infantile onset spinocerebellar ataxia
RS759603724 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS759604491 TSFM Health Risk Conflicting classifications of pathogenicity Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS759606476 UBE2T Health Risk Likely pathogenic —
RS759607901 POLH Health Risk Pathogenic Xeroderma pigmentosum variant type, Xeroderma pigmentosum
RS759608783 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS759610129 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS759612018 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS759612790 IFT172 Health Risk Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS759613137 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS75961395 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS759614533 MMP20 Health Risk Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A2, Amelogenesis imperfecta hypomaturation type 2A2
RS759615683 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS759618368 CTNNA3 Health Risk Likely pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS759622308 CLCN6 Health Risk Conflicting classifications of pathogenicity —
RS759622893 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS759623160 TET3 Health Risk Likely pathogenic Inborn genetic diseases, Beck-Fahrner syndrome
RS759623301 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS759623627 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS759623796 CTNS Health Risk Pathogenic Nephropathic cystinosis, Ocular cystinosis
RS759624003 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS759624618 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS759624749 FAM111A Health Risk Conflicting classifications of pathogenicity —
RS759625169 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS759626368 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS759627248 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS759627305 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS759627672 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS759628921 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759629466 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS759629535 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS759631057 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, X-linked Alport syndrome
RS759631551 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS759632048 PROP1 Health Risk Conflicting classifications of pathogenicity —
RS759632330 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS759632485 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS759632528 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS759632589 GBA2 Health Risk Pathogenic Hereditary spastic paraplegia 46, Spastic paraplegia
RS759632617 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS759632995 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS759633494 GLB1 Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS759633668 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Inborn genetic diseases
RS759634066 COL7A1 Health Risk Pathogenic/Likely pathogenic Recessive dystrophic epidermolysis bullosa, COL7A1-related disorder
RS759634111 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS759636736 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS759636773 B3GAT3 Health Risk Pathogenic Larsen-like syndrome, B3GAT3 type
RS759637055 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS759637817 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS759637818 RHO Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS759638292 KDM1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759638923 SEMA4A Health Risk Conflicting classifications of pathogenicity —
RS759639016 CDH2 Health Risk Conflicting classifications of pathogenicity —
RS759639526 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS759639806 SAG Health Risk Pathogenic —
RS759640087 RNF125 Health Risk Conflicting classifications of pathogenicity Tenorio syndrome, Inborn genetic diseases
RS759640649 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759641262 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS759641927 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS759641985 HACE1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome
RS759642119 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dystrophin deficiency
RS759642651 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS759643114 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759643427 BCHE Health Risk Pathogenic/Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS759643679 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS759643831 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, NOTCH1-related disorder
RS759644676 SPEG Health Risk Pathogenic Myopathy, centronuclear
RS759644973 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica, 7 conditions
RS759644974 CDH23 Health Risk Likely pathogenic —
RS759646195 ITCH Health Risk Conflicting classifications of pathogenicity Syndromic multisystem autoimmune disease due to ITCH deficiency, Colorectal cancer
« Prev 1 ... 3351 3352 3353 3354 3355 3356 3357 ... 4509 Next »

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

Get Started Free →