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
RS1837613320 RET Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS1837613489 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS183764569 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS183764694 SCN3A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 62
RS1837660523 RET Health Risk Pathogenic —
RS183770014 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1A
RS183771956 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS1837729713 RET Health Risk Likely pathogenic RET-related disorder, RET-related disorder
RS1837733068 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1837733775 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS183776114 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS183776349 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1837778621 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS1837779952 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS183784665 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS183784857 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS1837849183 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1837849469 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1837850102 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1837854100 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS183785901 TMEM216 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 2, Meckel syndrome
RS1837911590 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1837949550 PTCH1 Health Risk Conflicting classifications of pathogenicity Basal cell carcinoma, susceptibility to
RS183799079 GPR179 Health Risk Conflicting classifications of pathogenicity GPR179-related disorder, Inborn genetic diseases
RS1837993502 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1837994023 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS183800704 CCDC180 Health Risk Conflicting classifications of pathogenicity Mycotic Aneurysm, Intracranial
RS1838016447 RET Health Risk Conflicting classifications of pathogenicity Renal hypodysplasia/aplasia 1, Pheochromocytoma
RS183802802 FGF23 Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS1838031568 PTCH1 Health Risk Conflicting classifications of pathogenicity Turner syndrome, Gorlin syndrome
RS1838077833 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS183812420 PCK1 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS183812948 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS183814213 EYS Health Risk Conflicting classifications of pathogenicity Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa
RS183815209 ZNF407 Health Risk Conflicting classifications of pathogenicity —
RS1838166153 COL5A1 Health Risk Pathogenic —
RS1838169083 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS183817000 RET Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Renal hypodysplasia/aplasia 1
RS1838178513 RET Health Risk Likely pathogenic Hirschsprung disease, susceptibility to
RS1838178869 RET Health Risk Likely pathogenic Hirschsprung disease, susceptibility to
RS1838178970 RET Health Risk Pathogenic Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2B
RS183819382 DMD Health Risk Conflicting classifications of pathogenicity Becker muscular dystrophy, Duchenne muscular dystrophy
RS183820888 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1838244110 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1838244368 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1838252619 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1838279783 SLC18A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS183828175 POMT2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1838287933 ARFGEF1 Health Risk Pathogenic Global developmental delay, Delayed speech and language development
RS1838291478 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS183829292 DLAT Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
RS1838303339 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1838303542 PTCH1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1838305772 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1838307047 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1838315058 PTCH1 Health Risk Pathogenic/Likely pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS183834387 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS183837448 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS1838374810 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2B
RS183837653 TRPM1 Health Risk Conflicting classifications of pathogenicity —
RS1838376770 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS183838250 CNGA3 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Achromatopsia 2
RS183839621 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1838416489 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1838431452 STXBP1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 4
RS1838467288 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS183851663 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS183851734 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADGRV1-related disorder
RS183855575 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS183856964 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, TRPM1-related disorder
RS183861757 ALG6 Health Risk Conflicting classifications of pathogenicity ALG6-congenital disorder of glycosylation 1C, ALG6-related disorder
RS183862736 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS1838630775 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS1838635016 CHAT Health Risk Pathogenic/Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS1838635262 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS183864227 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS1838655420 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS183865568 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS1838658874 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1838661583 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1838664702 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1838678412 MED27 Health Risk Pathogenic Neurodevelopmental disorder with spasticity, cataracts
RS1838681432 ADAM9 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 9, Cone-rod dystrophy
RS183868804 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1838729952 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS183873209 LMAN1 Health Risk Likely pathogenic Factor V and factor VIII, combined deficiency of
RS183877705 CCDC22 Health Risk Conflicting classifications of pathogenicity —
RS183879985 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS183880522 MCPH1 Health Risk Conflicting classifications of pathogenicity —
RS183881247 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS183885218 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, TCIRG1-related disorder
RS183885357 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Nephronophthisis
RS1838882266 ADAM9 Health Risk Likely pathogenic —
RS1838883166 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS183890063 LAMA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA2-related muscular dystrophy
RS183891852 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glomerulopathy with fibronectin deposits 2
RS1838926237 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1838929775 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1838935159 COL5A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1838936100 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
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