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
RS145595228 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS145595429 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145595957 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS145596057 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS145596167 PMPCB Health Risk Likely pathogenic Multiple mitochondrial dysfunctions syndrome 6, Inborn genetic diseases
RS145596547 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS145596938 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS1455970082 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1455981520 SATB1 Health Risk Conflicting classifications of pathogenicity Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like
RS145598174 HGF Health Risk Conflicting classifications of pathogenicity —
RS145598272 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1455983505 COL11A2 Health Risk Pathogenic Fibrochondrogenesis 2, Fibrochondrogenesis 2
RS145598353 IL17F Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS1455991766 SEC23B Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II
RS1455993955 PNLIP Health Risk Pathogenic —
RS1455996178 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1455998081 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1456001894 ZIC2 Health Risk Likely pathogenic Holoprosencephaly 5, Holoprosencephaly 5
RS1456007349 PEX7 Health Risk Pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS145601931 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS145602271 SCNN1G Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS145602856 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS145603325 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 3B
RS145603444 DUS4L-BCAP29;COG5;DUS4L Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, Acute myeloid leukemia
RS1456043929 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS1456044134 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Nemaline myopathy 6
RS1456047165 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1456048322 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell nevus syndrome 2
RS1456049352 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer
RS145605603 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS145605739 PDE6B Health Risk Pathogenic Retinal dystrophy, Autosomal recessive retinitis pigmentosa
RS145606585 LRPPRC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145607989 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
RS145608358 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS145609043 FTCD Health Risk Conflicting classifications of pathogenicity Glutamate formiminotransferase deficiency, Inborn genetic diseases
RS1456090810 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis
RS145609489 BLOC1S3 Health Risk Conflicting classifications of pathogenicity —
RS1456101911 TTR Health Risk Likely pathogenic Amyloidosis, hereditary systemic 1
RS145610977 TYR Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS145611185 MYH6 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 14
RS145611571 RAF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS145611717 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, TG-related disorder
RS1456118236 OCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Tyrosinase-positive oculocutaneous albinism
RS145611966 CYP4V2 Health Risk Conflicting classifications of pathogenicity Bietti crystalline corneoretinal dystrophy, Corneal dystrophy
RS145612009 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Cutis laxa
RS1456129845 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS145613634 FANCG Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS145613857 SLC35C1 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency type II, SLC35C1-related disorder
RS1456143398 MTHFD1 Health Risk Pathogenic Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
RS145614363 DNAH10 Health Risk Conflicting classifications of pathogenicity —
RS145614671 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Inborn genetic diseases
RS145614809 RAG2 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1456151637 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS145615604 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Inborn genetic diseases
RS1456158956 PKLR Health Risk Likely pathogenic —
RS1456161420 HSF4 Health Risk Likely pathogenic Cataract 5 multiple types, Cataract 5 multiple types
RS145616631 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1456167867 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS145618093 IL6ST Health Risk Conflicting classifications of pathogenicity —
RS1456182343 COX20 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 11
RS1456182703 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS145619075 ODAD2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 23, Primary ciliary dyskinesia
RS1456197449 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145619906 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5
RS1456201116 CACNB2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Brugada syndrome 4
RS1456207017 ANKRD11 Health Risk Conflicting classifications of pathogenicity ANKRD11-related disorder, KBG syndrome
RS1456208953 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS145621558 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1456219036 LOXHD1 Health Risk Conflicting classifications of pathogenicity —
RS145623013 PLN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1P, Cardiomyopathy
RS145623359 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa
RS1456235557 PLK4 Health Risk Likely pathogenic PLK4-related microcephaly and growth failure with or without ocular features, PLK4-related microcephaly and growth failure with or without ocular features
RS1456237152 ABCG8 Health Risk Pathogenic/Likely pathogenic ABCG8-related disorder, Sitosterolemia
RS145625991 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS145627040 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS1456276440 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, RYR1-related disorder
RS145627647 IFT52 Health Risk Conflicting classifications of pathogenicity IFT52-related disorder, Melanoma
RS145628190 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS145628302 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Hyperammonemia
RS145628307 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS145628676 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases
RS1456289029 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS145629147 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS1456291681 CTSF Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases
RS1456292063 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS145629242 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1456296764 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1456300819 DYNC2I1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Short-rib thoracic dysplasia 8 with or without polydactyly
RS145630728 ALDH1A3 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 8, Inborn genetic diseases
RS145631247 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS145631389 ROR2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS145632008 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, PRDM16-related disorder
RS145632647 DNMT3B Health Risk Conflicting classifications of pathogenicity Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS1456336365 PDE6A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS145633958 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2A, Hereditary cancer-predisposing syndrome
RS145634348 TMX2 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, cortical malformations
RS145634440 ANLN Health Risk Conflicting classifications of pathogenicity —
RS145634473 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145635131 TPP2 Health Risk Conflicting classifications of pathogenicity Evans syndrome, immunodeficiency
RS145635235 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
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