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
RS758716466 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Nephronophthisis 3
RS758717223 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS758718347 ADGRV1 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Febrile seizures
RS758718496 LIAS Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS758718584 NDRG1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS758718732 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS758719615 NEXMIF Health Risk Pathogenic Continuous spike and waves during slow sleep, X-linked intellectual disability
RS758719669 RNASEH2A Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4, Inborn genetic diseases
RS758719852 GGCX Health Risk Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of
RS758720475 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS758721847 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS758722968 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS758723288 ECHS1 Health Risk Pathogenic/Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, ECHS1-related disorder
RS758723407 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS758724746 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS758725010 POC1B Health Risk Likely pathogenic Cone-rod dystrophy 20, Cone-rod dystrophy 20
RS758725073 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS758725402 FGF23 Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS758725993 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS758726044 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS758726258 TLK2 Health Risk Pathogenic Intellectual disability, autosomal dominant 57
RS758727451 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS758727749 HPDL Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS758728429 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS758728491 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS758728749 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 2
RS758729806 GPNMB Health Risk Pathogenic/Likely pathogenic Amyloidosis, primary localized cutaneous
RS758730453 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS758731318 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS758732038 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Familial cancer of breast
RS758732081 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS758732107 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS758732551 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS758732755 DMPK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758733024 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39
RS758733242 GPSM2 Health Risk Likely pathogenic —
RS758733846 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS758733887 TCTN3 Health Risk Conflicting classifications of pathogenicity Orofacial-digital syndrome IV, Joubert syndrome 18
RS75873440 RET Health Risk Conflicting classifications of pathogenicity Familial medullary thyroid carcinoma, Multiple endocrine neoplasia
RS758736270 NDUFAF5 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS758736477 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS758737171 GCK Health Risk Pathogenic Inborn genetic diseases, Permanent neonatal diabetes mellitus
RS758737233 CUL7 Health Risk Pathogenic 3-M syndrome, 3-M syndrome
RS758738191 ADGRV1 Health Risk Pathogenic —
RS758739455 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS758739748 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS758739930 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS758740269 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS758740850 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS758742595 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
RS758743247 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS758744263 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS758745099 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS758746181 EIF2B1 Health Risk Pathogenic/Likely pathogenic Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 1
RS758746256 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS758746685 WFS1 Health Risk Uncertain significance/Uncertain risk allele Monogenic diabetes, Wolfram syndrome 1
RS758748011 AP4S1 Health Risk Likely pathogenic Hereditary spastic paraplegia 52, Spastic paraplegia
RS758748206 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758748280 CASQ2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS758748687 XDH Health Risk Likely pathogenic Hereditary xanthinuria type 1, Hereditary xanthinuria type 1
RS758749258 RNH1 Health Risk risk factor Encephalitis, acute
RS758749484 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS758749603 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS758750492 BLK Health Risk Pathogenic Systemic lupus erythematosus, Systemic lupus erythematosus
RS758751113 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinal dystrophy
RS758751607 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Long QT syndrome
RS758752052 HIVEP2 Health Risk Conflicting classifications of pathogenicity —
RS758752836 TBX5 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Cardiovascular phenotype
RS758753292 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS758753966 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS758754046 ABCC8 Health Risk Pathogenic/Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS758754933 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS758755198 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, MYH9-related disorder
RS758755293 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS758756046 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS758756630 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS758756716 ABCA12 Health Risk Pathogenic —
RS758757125 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS758757135 TWNK Health Risk Conflicting classifications of pathogenicity Autosomal recessive cerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS758758266 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS758758729 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Trichothiodystrophy 1
RS758759342 TBC1D7 Health Risk Pathogenic Macrocephaly/megalencephaly syndrome, autosomal recessive
RS758759348 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B5
RS758761887 KIF11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758762096 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS758762868 POLE Health Risk Conflicting classifications of pathogenicity Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Intrauterine growth retardation
RS758763241 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS758763586 CIB2 Health Risk Conflicting classifications of pathogenicity —
RS758764353 SCN4B Health Risk Conflicting classifications of pathogenicity Long QT syndrome 10, Long QT syndrome 10
RS758764445 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS758765095 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS758765126 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS758765842 GLE1 Health Risk Conflicting classifications of pathogenicity Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1
RS758766818 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS758768503 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS758769193 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS758769842 EYS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758771584 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS758773114 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS758774720 PYGM Health Risk Conflicting classifications of pathogenicity Tip-toe gait, Glycogen storage disease
« Prev 1 ... 3337 3338 3339 3340 3341 3342 3343 ... 4509 Next »

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

Get Started Free →