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
RS201822171 NAA15 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 50
RS201822255 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Elliptocytosis 2
RS201822310 B3GALNT2 Health Risk Likely pathogenic —
RS201822740 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS201823140 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS201823433 FGFR1 Health Risk Conflicting classifications of pathogenicity Trigonocephaly 1, Osteoglophonic dysplasia
RS201823490 COL2A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS201823549 VPS13D Health Risk Conflicting classifications of pathogenicity Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Inborn genetic diseases
RS201823591 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS201823652 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS201823743 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS201823777 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS201824349 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS201824364 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS201824659 PRMT7 Health Risk Pathogenic/Likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Neurodevelopmental abnormality
RS201825284 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS201825412 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201825451 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS201825493 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS201825699 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS201826191 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS201826366 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 11
RS201826412 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS201826605 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis
RS201826850 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS201826872 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS201826901 PCDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201827132 TCTN2 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS201827208 WDR73 Health Risk Conflicting classifications of pathogenicity Galloway-Mowat syndrome 1, Gastric cancer
RS201827299 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS201827413 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201827443 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS201827489 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Primary dilated cardiomyopathy
RS201827579 CCDC8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201827828 ALG14 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 15, Inborn genetic diseases
RS201828034 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS201828535 ERCC2 Health Risk Conflicting classifications of pathogenicity Trichothiodystrophy 1, photosensitive
RS201828578 FOXF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201828747 HPGD Health Risk Conflicting classifications of pathogenicity Hypertrophic osteoarthropathy, primary
RS201828791 TACR3 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia
RS201828974 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS201829296 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Inborn genetic diseases
RS201829983 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS201830013 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS201830045 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS201830047 GLE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201830316 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS201831309 LAMA1 Health Risk Conflicting classifications of pathogenicity Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Retinal dystrophy
RS201831465 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Melanoma
RS201831615 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201831707 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201831831 POC5 Health Risk Conflicting classifications of pathogenicity —
RS201831933 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS2018334698 CSNK2A1 Health Risk Likely pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS2018334830 CSNK2A1 Health Risk Pathogenic/Likely pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS201833947 SLCO1B3 Health Risk Likely pathogenic Rotor syndrome, Rotor syndrome
RS201834126 TCTN2 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 24, Meckel syndrome
RS201834175 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS201834513 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Ehlers-Danlos syndrome
RS201834537 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS201834541 GLI2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, GLI2-related disorder
RS201834743 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS201834803 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS201834847 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Inborn genetic diseases
RS201835072 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS201835155 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases
RS201835379 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS201835496 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS201835888 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201836062 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS201836196 TALDO1 Health Risk Pathogenic Deficiency of transaldolase, Deficiency of transaldolase
RS201836353 TRAPPC9 Health Risk Likely pathogenic —
RS201836415 XRCC2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS201836697 TULP1 Health Risk Pathogenic Retinitis pigmentosa 14, Retinitis pigmentosa 14
RS201837257 SLC46A1 Health Risk Conflicting classifications of pathogenicity Congenital defect of folate absorption, Intellectual disability
RS201837442 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2018374647 CSNK2A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2018375147 CSNK2A1 Health Risk Pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS201837579 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS2018375840 CSNK2A1 Health Risk Likely pathogenic Okur-Chung neurodevelopmental syndrome, Okur-Chung neurodevelopmental syndrome
RS201837864 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201838350 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS201838492 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS201838800 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS201838837 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS201839118 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201839693 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS201839712 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS201840174 FOXL2 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Blepharophimosis
RS201840392 WNK3 Health Risk Conflicting classifications of pathogenicity —
RS201840472 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS201840505 RMND1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11
RS201840539 SIM2 Health Risk Likely pathogenic Neurodevelopmental with craniofacial anomalies disorder, Neurodevelopmental with craniofacial anomalies disorder
RS201840554 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201840561 CD3E Health Risk Pathogenic Immunodeficiency 18, Immunodeficiency 18
RS201840590 CLCA4 Health Risk Conflicting classifications of pathogenicity —
RS201840785 VANGL1 Health Risk Conflicting classifications of pathogenicity Neural tube defect, Sacral defect with anterior meningocele
RS201840907 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS2018409484 CSNK2A1 Health Risk Likely pathogenic —
RS201841018 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Amyotrophic lateral sclerosis
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