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
RS10111612 TACC1 Health Risk Conflicting classifications of pathogenicity —
RS1011184132 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1011185031 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B
RS1011193191 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1011196447 GFPT1 Health Risk Pathogenic Congenital myasthenic syndrome 12, Abnormality of the musculature
RS1011200048 BSCL2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Congenital generalized lipodystrophy type 2
RS1011204533 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1011254015 BCL11B Health Risk Conflicting classifications of pathogenicity BCL11B-related disorder, BCL11B-related disorder
RS1011282445 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS1011286644 AMPD2 Health Risk Pathogenic Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9
RS1011303295 WNT10A Health Risk Pathogenic/Likely pathogenic Odonto-onycho-dermal dysplasia, Schöpf-Schulz-Passarge syndrome
RS1011307501 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1011357372 NFIB Health Risk Likely pathogenic Macrocephaly, acquired
RS1011397929 SGCG Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1011425121 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1011427406 HBB Health Risk Conflicting classifications of pathogenicity —
RS1011427549 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS10114470 TNFSF15 Health Risk Uncertain risk allele Leprosy, susceptibility to
RS1011453043 ADAMTS18 Health Risk Pathogenic Microcornea-myopic chorioretinal atrophy, Microcornea-myopic chorioretinal atrophy
RS1011460663 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiac arrhythmia
RS1011464295 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Aortic valve disease 2
RS1011464708 SUCLA2 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS1011480433 IL1RN Health Risk Likely pathogenic IL1RN-related disorder, IL1RN-related disorder
RS1011484252 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS1011541536 SETBP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
RS1011558573 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1011559873 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1011581295 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1011589357 DDRGK1 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Shohat type
RS1011619050 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Cardiovascular phenotype
RS1011631903 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1011669605 NPC2 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C2
RS1011669872 HSPB8 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS10117 HSPA9 Health Risk Conflicting classifications of pathogenicity Even-plus syndrome, Even-plus syndrome
RS1011715171 LAMC3 Health Risk Pathogenic —
RS1011716245 RARS2 Health Risk Likely pathogenic —
RS1011727375 GHR Health Risk Pathogenic/Likely pathogenic Laron-type isolated somatotropin defect, Growth hormone insensitivity syndrome
RS1011754140 CDK8 Health Risk Likely pathogenic Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities
RS1011757302 TPRN Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1011767398 SP110 Health Risk Pathogenic/Likely pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Mycobacterium tuberculosis
RS1011767739 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS1011775158 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS1011857582 PIKFYVE Health Risk Pathogenic PIKFYVE-related disorder, PIKFYVE-related disorder
RS1011870043 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1011923461 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1011931149 SEC63 Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS1011934257 SCN5A Health Risk Conflicting classifications of pathogenicity 8 conditions, 8 conditions
RS1011978513 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, PCCB-related disorder
RS1011986078 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS1011987148 GBA2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1012004126 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency
RS1012017728 ABCA4 Health Risk Conflicting classifications of pathogenicity Stargardt disease, Retinal dystrophy
RS1012068196 SCN5A Health Risk Conflicting classifications of pathogenicity Long QT syndrome 3, Brugada syndrome 1
RS1012084121 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrin deficiency, Citrullinemia
RS1012101301 EP300 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, EP300-related disorder
RS1012160082 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1012166328 FBXO7 Health Risk Conflicting classifications of pathogenicity Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS1012168637 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Inborn genetic diseases
RS1012171328 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1012178126 AMH Health Risk Likely pathogenic —
RS1012193526 MCCC1 Health Risk Pathogenic/Likely pathogenic Methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1012219606 CHD8 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS1012221437 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS1012247750 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS1012254852 UPB1 Health Risk Likely pathogenic Deficiency of beta-ureidopropionase, UPB1-related disorder
RS1012275384 TSEN54 Health Risk Pathogenic Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A
RS1012284944 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1012350596 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1012398135 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1012399660 MAPKAPK5 Health Risk Pathogenic Neurocardiofaciodigital syndrome, Neurocardiofaciodigital syndrome
RS1012418859 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1012449574 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS1012455878 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS1012468951 DNHD1 Health Risk Pathogenic —
RS1012472070 PIEZO1 Health Risk Likely pathogenic —
RS1012493577 NR2E3 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS1012514808 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS1012567148 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS1012575668 ABCB4 Health Risk Pathogenic/Likely pathogenic Low phospholipid associated cholelithiasis, Cholestasis
RS1012634268 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1012665311 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1012702109 IGHMBP2 Health Risk Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1012740056 FOLR1 Health Risk Likely pathogenic —
RS1012750146 NKX2-5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Atrial septal defect 7
RS1012756707 AAAS Health Risk Pathogenic —
RS1012765041 PDE6C Health Risk Pathogenic —
RS1012778505 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS1012809189 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1012819766 KIF5A Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 10
RS1012901050 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1012929202 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1012938610 IFNGR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 28, IFNGR2-related disorder
RS1012962799 HUWE1 Health Risk Conflicting classifications of pathogenicity —
RS1013015106 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy
RS1013032001 EIF2AK3 Health Risk Conflicting classifications of pathogenicity —
RS1013039657 AHDC1 Health Risk Likely pathogenic —
RS1013053543 CYP4V2 Health Risk Pathogenic —
RS1013079991 BSCL2 Health Risk Pathogenic Congenital generalized lipodystrophy type 2, Berardinelli-Seip congenital lipodystrophy
RS1013100046 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1013131972 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
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