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
RS147244321 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 8
RS147244662 TLR7 Health Risk Conflicting classifications of pathogenicity —
RS147245615 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1AA
RS1472458142 POLR1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147245875 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS147246197 SLC40A1 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 4, Inborn genetic diseases
RS147246725 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS1472467905 BRWD1 Health Risk Conflicting classifications of pathogenicity Recurrent otitis media, Recurrent sinusitis
RS147247206 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS147247575 TMEM106B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147247719 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS147248229 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS1472488128 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS1472489170 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1472489567 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS147249343 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS1472494326 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS147250678 CAV3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Long QT syndrome
RS147251038 MAK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147251476 L1CAM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS1472519086 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1472530614 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS147253069 OTUD4 Health Risk Conflicting classifications of pathogenicity —
RS1472533012 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS147254212 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1472549168 CRPPA Health Risk Conflicting classifications of pathogenicity ISPD-related disorder, Autosomal recessive limb-girdle muscular dystrophy type 2U
RS1472555983 HSD11B2 Health Risk Pathogenic —
RS1472557461 GLI2 Health Risk Conflicting classifications of pathogenicity Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS147255921 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Inborn genetic diseases
RS1472560195 FKTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
RS1472566324 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS147256635 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity ADAMTSL4-related disorder, Inborn genetic diseases
RS147256952 CYP2U1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS147257424 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS147257615 LRPPRC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital lactic acidosis
RS1472577530 OTUD6B Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with dysmorphic facies, seizures
RS1472583838 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1472584032 CAPN3 Health Risk Likely pathogenic Muscular dystrophy, limb-girdle
RS147258453 FOXC2 Health Risk Conflicting classifications of pathogenicity Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS147258619 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS1472590403 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS147259096 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS147259596 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS147259971 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS1472603091 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS147260398 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS147260497 C1QB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147261047 DISC1 Health Risk Conflicting classifications of pathogenicity DISC1-related disorder, DISC1-related disorder
RS1472611150 MYO7A Health Risk Pathogenic —
RS147261175 KANK1 Health Risk Conflicting classifications of pathogenicity Cerebral palsy, spastic quadriplegic
RS147261300 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1472614573 POLR3A Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS1472626804 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS147263499 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS147264215 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1472642577 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1472644881 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS147264763 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS1472653057 SLC4A1 Health Risk Pathogenic —
RS147267500 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome
RS147267631 TMEM216 Health Risk Likely pathogenic Joubert syndrome 2, Meckel syndrome
RS147267783 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS147268052 POMT2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS147268542 TYRP1 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
RS1472685858 VPS53 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E
RS147269000 ERCC6L2 Health Risk Conflicting classifications of pathogenicity ERCC6L2-related disorder, Pancytopenia-developmental delay syndrome
RS1472690723 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS147269809 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS1472698495 ETHE1 Health Risk Likely pathogenic —
RS1472700264 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS147270297 TBX3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TBX3-related disorder
RS147270670 LMBRD1 Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria and homocystinuria type cblF, Inborn genetic diseases
RS147270785 MASP2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to MASP-2 deficiency, Immunodeficiency due to MASP-2 deficiency
RS147271219 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS1472714005 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS147271727 CMYA5 Health Risk Conflicting classifications of pathogenicity —
RS1472724099 POLA1 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia, Inborn genetic diseases
RS1472724809 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1472729808 CDK13 Health Risk Conflicting classifications of pathogenicity —
RS1472737578 MBD5 Health Risk Conflicting classifications of pathogenicity —
RS147274215 ARHGAP24 Health Risk Conflicting classifications of pathogenicity —
RS147274805 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1472751695 CFAP418 Health Risk Conflicting classifications of pathogenicity CFAP418-related disorder, CFAP418-related disorder
RS147275663 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS147275962 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases
RS147276536 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS147276580 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS147276708 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS147277075 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS147277149 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS147277415 SIGLEC1 Health Risk Conflicting classifications of pathogenicity —
RS147277743 ATP13A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS147277754 KIF12 Health Risk Conflicting classifications of pathogenicity —
RS147278705 CACNA2D2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Inborn genetic diseases
RS147278787 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS147278907 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS1472791220 SPATA7 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1472802723 PROM1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS147280414 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, CLCN7-related disorder
RS1472808103 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
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