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
RS757300574 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS757300589 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS757301110 CEP83 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 18, Nephronophthisis 18
RS757301165 IFT52 Health Risk Pathogenic —
RS757301333 DYNC2H1 Health Risk Pathogenic —
RS757302286 ABCA4 Health Risk Pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS757302363 MGME1 Health Risk Pathogenic —
RS757302796 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS757303224 RSPH4A Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757303233 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS757303269 HADHB Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS757303526 CHAT Health Risk Pathogenic/Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS757303904 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS757304363 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS757305371 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS757305430 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS757305597 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS757309140 RAI1 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS757309583 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Meckel-Gruber syndrome
RS757310141 ATP1A2 Health Risk Pathogenic/Likely pathogenic Migraine, familial hemiplegic
RS757311287 UNG Health Risk Pathogenic Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS757311436 C2 Health Risk Conflicting classifications of pathogenicity —
RS757311669 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS757312078 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS757313469 EPHA2 Health Risk Pathogenic Cataract 6 multiple types, EPHA2-related disorder
RS757313788 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS757315203 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS757316631 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS75731670 SLC4A1 Health Risk Conflicting classifications of pathogenicity BLOOD GROUP--WRIGHT ANTIGEN, Hereditary spherocytosis type 4
RS757317844 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II
RS757318200 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757318536 ADAMTSL4 Health Risk Pathogenic Ectopia lentis 2, isolated
RS757322014 POMGNT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS757322533 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS757323460 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS757323641 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS757324104 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS757325572 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS757325789 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS757326350 PLCZ1 Health Risk Likely pathogenic Spermatogenic failure 17, PLCZ1-related disorder
RS757326594 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS757327094 ALPK3 Health Risk Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS757327146 TMC1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 7, Hearing loss
RS757328220 TBC1D24 Health Risk Conflicting classifications of pathogenicity Familial infantile myoclonic epilepsy, TBC1D24-related disorder
RS757328377 GFPT1 Health Risk Pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS75732872 ADGRV1 Health Risk Pathogenic —
RS757328753 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS757331255 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS757331566 SLC45A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757332023 TIA1 Health Risk Conflicting classifications of pathogenicity AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA, Welander distal myopathy
RS757332415 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS757332983 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS757333854 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS757334247 SCLT1 Health Risk Pathogenic —
RS757336022 SH3BP2 Health Risk Pathogenic/Likely pathogenic Fibrous dysplasia of jaw, Fibrous dysplasia of jaw
RS757336023 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS757336927 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS757338614 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS757339655 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS757340097 NAF1 Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS75734048 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, Orthostatic hypotension 1
RS757340973 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS757341382 GPI Health Risk Pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS757341933 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome, Benign familial hematuria
RS757343393 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS757344228 SLC45A2 Health Risk Pathogenic Oculocutaneous albinism type 4, SLC45A2-related disorder
RS757345150 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS757345902 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS757345929 VPS13D Health Risk Pathogenic —
RS757347274 B3GALNT2 Health Risk Likely pathogenic Inborn genetic diseases, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS757347786 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS757348545 TCTN1 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS757349371 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757349638 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS757349824 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS757350052 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS757350157 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS757350813 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS757351084 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS757351670 LGR4 Health Risk Pathogenic Delayed puberty, self-limited
RS757351765 FANCM Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 28, Premature ovarian failure 15
RS757351801 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Melanoma
RS757351921 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS757352177 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS757352407 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS757352623 FLNC Health Risk Pathogenic Cardiovascular phenotype, Myofibrillar myopathy 5
RS757353933 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS757353994 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757355636 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS757357348 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS757357705 ASH1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 52
RS757357954 AHCY Health Risk Conflicting classifications of pathogenicity Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Familial cancer of breast
RS757358893 LEPR Health Risk Pathogenic/Likely pathogenic Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency
RS757359024 PKLR Health Risk Conflicting classifications of pathogenicity PKLR-related disorder, PKLR-related disorder
RS757359379 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS757359386 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Inborn genetic diseases
RS757359393 TBC1D24 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS757359712 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS757360892 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Inborn genetic diseases
RS757362953 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
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