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
RS138739620 HMGCS2 Health Risk Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS1387399556 DYNC1H1 Health Risk Pathogenic —
RS138740193 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, PDGFRA-related disorder
RS1387402564 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS138741202 EIF2B3 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, EIF2B3-related disorder
RS138741225 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, BCOR-related disorder
RS138741747 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, COG8-related disorder
RS1387418594 TULP1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 15, Retinitis pigmentosa 14
RS138742252 ELP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ELP2-related disorder
RS1387426259 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS138742804 MED23 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 18
RS138743097 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS1387431334 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1387431464 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS138743322 DUOX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138743872 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, MYO5B-related disorder
RS1387442810 TCN2 Health Risk Likely pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS138744722 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS1387448237 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS138744839 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS138745073 POMGNT1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 76, Muscle eye brain disease
RS1387453473 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS138745459 DZIP1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1387456031 VPS13C Health Risk Pathogenic —
RS138745849 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1387460227 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS1387462152 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138746296 MTMR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS138746304 FUS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 6
RS1387467529 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS138747073 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1387479871 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS138748289 POLE Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
RS138748613 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, LAMB3-related disorder
RS138749562 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS1387498138 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS138749826 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS138749920 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS1387503550 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS138750421 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myopathy
RS1387507346 LOX Health Risk Pathogenic —
RS138750878 FAT2 Health Risk Conflicting classifications of pathogenicity FAT2-related disorder, FAT2-related disorder
RS138751097 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS138751215 GHRHR Health Risk Conflicting classifications of pathogenicity Isolated growth hormone deficiency type IB, Inborn genetic diseases
RS1387516050 EPM2A Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Lafora disease
RS138752449 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases
RS1387536593 COL27A1 Health Risk Likely pathogenic —
RS1387537859 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS138753870 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS138754006 PTPN23 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
RS138754148 CANT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS138754417 F13A1 Health Risk Conflicting classifications of pathogenicity Factor XIII, A subunit
RS138754589 SETD1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138756345 WNT10B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS138756386 ERCC6 Health Risk Conflicting classifications of pathogenicity —
RS138757060 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Cardiomyopathy
RS138757552 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder
RS138758064 ERCC6 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS138758085 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS1387582423 PXDN Health Risk Pathogenic Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
RS1387584638 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS138760063 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS138760068 SMARCA2 Health Risk Conflicting classifications of pathogenicity Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS138760432 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS1387606271 NFKB1 Health Risk Pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS138761187 MCM8 Health Risk Pathogenic Premature ovarian failure 10, Premature ovarian failure 10
RS1387614369 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS138761522 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS1387621695 ABCA12 Health Risk Likely pathogenic —
RS138762270 SZT2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 18
RS138763545 KRIT1 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation, Inborn genetic diseases
RS138763605 PRMT7 Health Risk Conflicting classifications of pathogenicity Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS138764398 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS1387656757 TRIM8 Health Risk Likely pathogenic Focal segmental glomerulosclerosis, Seizure
RS138766015 SCN3A Health Risk Conflicting classifications of pathogenicity SCN3A-related disorder, SCN3A-related disorder
RS1387660387 VPS13A Health Risk Pathogenic —
RS138766042 LRRC56 Health Risk Conflicting classifications of pathogenicity LRRC56-related disorder, LRRC56-related disorder
RS138766213 PLXNA2 Health Risk Conflicting classifications of pathogenicity PLXNA2-related disorder, PLXNA2-related disorder
RS138767348 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS138767766 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS138768414 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS138768616 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS138768918 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS1387689607 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS138769395 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS138769892 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, LBR-related disorder
RS138770431 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS138770708 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS138771033 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS138771137 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS138771398 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome
RS1387716276 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS138771756 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
RS1387721179 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1387723456 LAMB2 Health Risk Pathogenic/Likely pathogenic Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS138772928 EIF2B5 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Inborn genetic diseases
RS138773278 PHEX Health Risk Likely pathogenic —
RS138773727 REST Health Risk Conflicting classifications of pathogenicity —
RS138774384 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Congenital hypothyroidism
RS1387756161 LMBRD1 Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
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