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
RS144164620 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS1441649062 GCK Health Risk Pathogenic/Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS144165094 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS1441654871 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS1441655600 ERCC6 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS1441655868 MED17 Health Risk Pathogenic —
RS1441657866 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS144165818 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS1441659798 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS144166142 TSPEAR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TSPEAR-related disorder
RS144166844 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Inborn genetic diseases
RS144167138 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1441671810 AR Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS144168709 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS144169027 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS144169073 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS144169411 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS144169488 PHYH Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Phytanic acid storage disease
RS144170692 UNC80 Health Risk Conflicting classifications of pathogenicity UNC80-related disorder, Hypotonia
RS144171225 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS144172190 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS144172463 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal renal tubular acidosis
RS144172724 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS144172952 ASTN2;TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 11, Sarcotubular myopathy
RS144173352 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS144174126 EDC3 Health Risk Conflicting classifications of pathogenicity —
RS1441743655 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS144174426 DCN Health Risk Conflicting classifications of pathogenicity Congenital stromal corneal dystrophy, Inborn genetic diseases
RS1441752228 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1441753402 LHX3 Health Risk Pathogenic —
RS1441766008 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS144177566 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, ALDH5A1-related disorder
RS1441779135 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS144178015 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS144178018 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS144178150 POLE Health Risk Conflicting classifications of pathogenicity Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Colorectal cancer
RS144178755 PER3 Health Risk Conflicting classifications of pathogenicity PER3-related disorder, PER3-related disorder
RS144179865 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS144180211 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS144180493 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1441817658 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS144181834 KL Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS144181978 DGUOK Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
RS144182297 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, FYCO1-related disorder
RS1441826695 PIEZO1 Health Risk Pathogenic/Likely pathogenic —
RS144182725 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS144182857 IL36RN Health Risk Conflicting classifications of pathogenicity Generalized pustular psoriasis, Autoinflammatory syndrome
RS144182921 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS144182966 CACNB2 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS144183238 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS1441833591 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS144183694 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1441845742 EYS Health Risk Pathogenic —
RS144185168 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy
RS1441862662 GJB2 Health Risk Pathogenic —
RS144186721 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1441877386 CEP290 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 14, Nephronophthisis
RS144187782 ARPC1B Health Risk Conflicting classifications of pathogenicity Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, ARPC1B-related disorder
RS144187959 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Hereditary spastic paraplegia
RS144189491 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS144189610 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS144189837 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS144190333 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
RS144190399 NBAS Health Risk Likely pathogenic —
RS144190443 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
RS1441909908 GBA1 Health Risk Likely pathogenic —
RS144191570 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS144191823 CEP89 Health Risk Conflicting classifications of pathogenicity —
RS1441922749 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS144192700 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, ABCC2-related disorder
RS144192844 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS144192900 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1441933780 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS144193508 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1441937053 CD46 Health Risk Pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome
RS1441937959 EFL1 Health Risk Conflicting classifications of pathogenicity Shwachman-Diamond syndrome 2, Shwachman syndrome
RS144195765 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
RS1441983264 LAMC3 Health Risk Pathogenic —
RS144199562 TTBK2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 11, TTBK2-related disorder
RS144200345 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS144200355 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Gallbladder disease 4
RS144200704 BCS1L Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 1, Leigh syndrome
RS144200709 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1442013338 NBAS Health Risk Pathogenic/Likely pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS144201778 TGM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia type 35
RS144203670 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS144203682 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1442037817 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS144204375 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144204614 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS1442053811 IL1RN Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis
RS1442056564 RELN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Norman-Roberts syndrome
RS1442062349 ELANE Health Risk Likely pathogenic Cyclical neutropenia, Neutropenia
RS144206255 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, SI-related disorder
RS144206271 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Inborn genetic diseases
RS1442064385 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS144206837 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS144207158 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Hyperinsulinemic hypoglycemia
RS144207207 PTPRJ Health Risk Conflicting classifications of pathogenicity —
RS1442078154 DNAI2 Health Risk Pathogenic/Likely pathogenic DNAI2-related disorder, Primary ciliary dyskinesia 9
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