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
RS1157452251 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS1157455673 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS115746363 FLG Health Risk Conflicting classifications of pathogenicity Ichthyosis vulgaris, Dermatitis
RS11574743 HNF4A Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS11574745 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS115747826 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome
RS1157488856 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS115750405 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS1157517282 ALG13 Health Risk Likely pathogenic Microcephaly, Microcephaly
RS1157519746 SKIC3 Health Risk Pathogenic —
RS1157521172 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS11575291 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, DDC-related disorder
RS1157530441 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS11575376 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Malignant tumor of esophagus
RS115754570 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS1157546350 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1157546558 TPP1 Health Risk Pathogenic —
RS1157548960 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS11575542 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS1157557804 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS1157567876 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1157575099 SMN1 Health Risk Likely pathogenic —
RS115757876 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS11575799 NRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NRAP-related disorder
RS11575837 NCR3 Health Risk Pathogenic Malaria, severe
RS11575845 MPIG6B Health Risk Pathogenic/Likely pathogenic Thrombocytopenia, anemia
RS11575873 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, SERPINA1-related disorder
RS115759032 LAMA1 Health Risk Conflicting classifications of pathogenicity LAMA1-related disorder, LAMA1-related disorder
RS11575933 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS11575936 IFNGR1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 27A, Disseminated atypical mycobacterial infection
RS11575937 LMNA Health Risk Conflicting classifications of pathogenicity Familial partial lipodystrophy, Dunnigan type
RS11575976 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease
RS11575982 CD40LG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS11575996 TP53 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS11575997 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS115760359 PSEN1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1U, Alzheimer disease 3
RS115760878 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2A (Zellweger)
RS1157646266 OTOG Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 18B
RS1157646541 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1157650702 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1157654626 NR2E3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Enhanced S-cone syndrome
RS1157667071 RAB3GAP2 Health Risk Likely pathogenic —
RS115767553 NPAT Health Risk Conflicting classifications of pathogenicity —
RS1157683205 PHF8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1157689930 PDZD7 Health Risk Pathogenic/Likely pathogenic Nonsyndromic genetic hearing loss, Hearing loss
RS1157693787 ELP1 Health Risk Likely pathogenic —
RS1157699874 G6PC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Inborn genetic diseases
RS1157713907 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1157715048 IMPG1 Health Risk Pathogenic —
RS1157720606 CACNA1S Health Risk Conflicting classifications of pathogenicity Muscular atrophy, skeletal contractures
RS1157722667 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS1157725695 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1157732943 USH2A Health Risk Pathogenic —
RS115773578 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS1157736285 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS1157749145 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS115775983 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS115776799 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1157768121 FH Health Risk Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS115777201 IRF6 Health Risk Conflicting classifications of pathogenicity Van der Woude syndrome, Popliteal pterygium syndrome
RS1157774154 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS1157785470 CILK1 Health Risk Pathogenic Endocrine-cerebro-osteodysplasia syndrome, Papillary renal cell carcinoma type 1
RS1157788242 PHKA1 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS1157791693 KIF1A Health Risk Conflicting classifications of pathogenicity See cases, Hereditary spastic paraplegia 30
RS1157808305 MCM3AP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS11578281 FMO3 Health Risk Conflicting classifications of pathogenicity Trimethylaminuria, Chronic lymphocytic leukemia/small lymphocytic lymphoma
RS1157836847 CHRNE Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4C
RS1157844813 PIDD1 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, autosomal recessive 75
RS115784602 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, ALDH5A1-related disorder
RS1157851269 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1157855841 ASAH1 Health Risk Likely pathogenic —
RS1157869748 STAR Health Risk Pathogenic —
RS1157872508 NHLRC1 Health Risk Pathogenic Lafora disease, Lafora disease
RS1157874688 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Inborn genetic diseases
RS1157880126 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS115788094 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS1157887321 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1157888951 CHD8 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS115790973 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1157919882 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS1157925654 RP1 Health Risk Pathogenic —
RS1157985962 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS115799546 NLRP1 Health Risk Conflicting classifications of pathogenicity NLRP1-related disorder, NLRP1-related disorder
RS115799619 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS1157997148 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS1158003090 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS115800799 TRIOBP Health Risk Conflicting classifications of pathogenicity —
RS1158043016 LAMA3 Health Risk Pathogenic —
RS1158059433 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1158061584 N4BP2L2 Health Risk Pathogenic Short stature, Short stature
RS115806626 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1158082114 ABCG5 Health Risk Pathogenic —
RS115810595 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1158130828 MAN1B1 Health Risk Pathogenic Rafiq syndrome, Rafiq syndrome
RS115813214 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS1158136597 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS115813669 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS1158141270 NALCN Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Hypotonia
RS1158151918 BPTF Health Risk Pathogenic —
RS1158155272 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
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