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
RS757869728 OBSL1 Health Risk Pathogenic —
RS757870208 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS757870729 AGL Health Risk Pathogenic Glycogen storage disease type III, Inborn genetic diseases
RS757870828 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS757870881 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS757870894 QRICH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ververi-Brady syndrome 1
RS757872564 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS757872635 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS757874547 DGUOK Health Risk Pathogenic —
RS757874580 LARP7 Health Risk Pathogenic Microcephalic primordial dwarfism, Alazami type
RS757874631 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS757875136 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS757877367 KCNJ5 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS757877420 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, Inborn genetic diseases
RS757878946 ABCB4 Health Risk Likely pathogenic —
RS757879229 TAT Health Risk Pathogenic/Likely pathogenic Tyrosinemia type II, Tyrosinemia type II
RS757881397 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS757881983 SLC16A2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Allan-Herndon-Dudley syndrome
RS757882235 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS757883156 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS757883355 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS757883779 SETX Health Risk Pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS757883936 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
RS757884073 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS757886671 MPDZ Health Risk Likely pathogenic —
RS757886838 TECTA Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 21, Autosomal recessive nonsyndromic hearing loss 21
RS757888034 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS757888349 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy
RS757888367 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS757888672 GCK Health Risk Pathogenic —
RS757890568 MED17 Health Risk Likely pathogenic —
RS757890592 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS757891932 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS757892928 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS757892950 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS757893642 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS757893762 SI Health Risk Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS757893794 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS757893858 GAA Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Glycogen storage disease
RS757894483 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS757894912 SACS Health Risk Pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS757895481 RECQL Health Risk Conflicting classifications of pathogenicity —
RS757895588 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757896094 CUL4B Health Risk Conflicting classifications of pathogenicity CUL4B-related disorder, Inborn genetic diseases
RS757896781 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS757896867 MYO7A Health Risk Pathogenic Usher syndrome type 1B, Usher syndrome type 1B
RS757897959 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS757898834 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757899517 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A1
RS757899657 APOA1 Health Risk Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
RS757899755 ACAD8 Health Risk Likely pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS757899954 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LONP1-related disorder
RS757900087 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS757900380 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6
RS757900399 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS757901425 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS757901877 CNTNAP1 Health Risk Pathogenic —
RS757902182 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS75790268 FGFR3 Health Risk Pathogenic Achondroplasia, Achondroplasia
RS757903212 USP9X Health Risk Likely pathogenic —
RS757903559 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS757904271 COCH Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9
RS757904452 MED13L Health Risk Conflicting classifications of pathogenicity Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Dextro-looped transposition of the great arteries
RS757905282 TGM1 Health Risk Likely pathogenic —
RS757905857 ACTG2 Health Risk Likely pathogenic Visceral myopathy 1, Visceral myopathy 1
RS757905943 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS757906173 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS757909102 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757909121 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS757909285 OTOF Health Risk Conflicting classifications of pathogenicity —
RS757910491 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS757910571 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS757910862 PARN Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 6
RS757911359 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS757912368 CHST6 Health Risk Pathogenic Macular corneal dystrophy, Macular corneal dystrophy
RS757912697 ALG3 Health Risk Likely pathogenic —
RS757912971 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Malignant tumor of urinary bladder
RS757913217 SOX2 Health Risk Conflicting classifications of pathogenicity Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS757914735 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS757914881 ATP2A2 Health Risk Pathogenic —
RS757914897 P4HTM Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS757915171 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS757916299 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS757917082 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS757917115 F5 Health Risk Pathogenic Congenital factor V deficiency, Factor V deficiency
RS757917155 TRPM1 Health Risk Pathogenic/Likely pathogenic —
RS757917276 CSF3R Health Risk Likely pathogenic —
RS757917335 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS757917876 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS757918162 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS757918826 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 2
RS757918924 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS757919500 ARID1A Health Risk Pathogenic —
RS757920082 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, LIPA-related disorder
RS757920190 CBS Health Risk Pathogenic/Likely pathogenic Homocystinuria, Classic homocystinuria
RS757923791 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS757925208 PROC Health Risk Pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS757925979 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS757926043 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS757926581 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
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