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
RS1878068615 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1878075866 MED13L Health Risk Conflicting classifications of pathogenicity Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Dextro-looped transposition of the great arteries
RS187810230 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS187811833 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS187813269 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1878142219 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS187815721 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Inborn genetic diseases
RS187817041 CUL7 Health Risk Likely pathogenic 3M syndrome 1, 3M syndrome 1
RS1878227240 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS187824231 SLC25A22 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1878244032 COL4A1 Health Risk Conflicting classifications of pathogenicity Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS1878248687 COL4A1 Health Risk Pathogenic/Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, COL4A1-related disorder
RS1878251067 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS1878255139 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1878257364 COL4A1 Health Risk Pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
RS1878258280 GDF11 Health Risk Pathogenic/Likely pathogenic Orofacial cleft, Vertebral hypersegmentation and orofacial anomalies
RS187826477 FRAS1 Health Risk Conflicting classifications of pathogenicity FRAS1-related disorder, FRAS1-related disorder
RS187828882 CBS Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection
RS187829374 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, CERKL-related disorder
RS187830361 MYBPC3 Health Risk Likely pathogenic Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1878332570 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS1878353719 STAT2 Health Risk Pathogenic —
RS1878361175 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS1878411313 STAT2 Health Risk Pathogenic —
RS1878411691 COL4A1 Health Risk Likely pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
RS1878413079 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1878413465 MED13L Health Risk Pathogenic/Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1878415865 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS1878419125 LIG4 Health Risk Pathogenic —
RS1878434294 UBE3B Health Risk Pathogenic Oculocerebrofacial syndrome, Kaufman type
RS187843998 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS1878457865 STAT2 Health Risk Pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS1878458116 MED13L Health Risk Pathogenic/Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, MED13L-related disorder
RS1878524886 DZIP1 Health Risk Pathogenic Spermatogenic failure 47, Spermatogenic failure 47
RS187859624 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS187863107 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS187864931 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS187868672 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS187870415 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS187879501 ADAMTS18 Health Risk Pathogenic —
RS187881525 LIG3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS187885782 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS187885923 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS187887082 AKR1D1 Health Risk Conflicting classifications of pathogenicity Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
RS187891791 TSHR Health Risk Conflicting classifications of pathogenicity Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
RS1879015838 COL4A1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS187901859 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, TGM1-related disorder
RS1879042937 MED13L Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1879044510 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS187905134 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
RS187906987 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS187907868 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1879091616 EDNRB Health Risk Likely pathogenic EDNRB-related disorder, EDNRB-related disorder
RS1879111145 EDNRB Health Risk Pathogenic/Likely pathogenic Hirschsprung disease, susceptibility to
RS187912365 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1879125566 MED13L Health Risk Pathogenic MED13L-related neurodevelopmental disorder, MED13L-related neurodevelopmental disorder
RS187915202 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1879161381 ATP2A2 Health Risk Pathogenic —
RS187917779 KCNE2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 6
RS1879182475 EFNB2 Health Risk Likely pathogenic —
RS1879198833 MED13L Health Risk Pathogenic —
RS1879202581 COG6 Health Risk Likely pathogenic COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation
RS1879213059 DUSP6 Health Risk Pathogenic Hypogonadotropic hypogonadism 19 with or without anosmia, Hypogonadotropic hypogonadism 19 with or without anosmia
RS187921784 TRNT1 Health Risk Conflicting classifications of pathogenicity Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Retinitis pigmentosa and erythrocytic microcytosis
RS1879220710 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1879225327 MED13L Health Risk Pathogenic —
RS187922600 PNPT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1879237220 COL4A1 Health Risk Likely pathogenic COL4A1-related disorder, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
RS187923731 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS187924099 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1879250715 PPP1R12A Health Risk Pathogenic Genitourinary and/or brain malformation syndrome, Genitourinary and/or brain malformation syndrome
RS1879262846 RNASEH2B Health Risk Likely pathogenic —
RS187930476 EPM2A Health Risk Pathogenic/Likely pathogenic Lafora disease, Progressive myoclonic epilepsy
RS187932146 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS1879360038 STAT2 Health Risk Conflicting classifications of pathogenicity Pseudo-TORCH syndrome 3, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS187937543 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Pigmented paravenous retinochoroidal atrophy
RS187941815 OTOGL Health Risk Conflicting classifications of pathogenicity —
RS1879429695 ATP2A2 Health Risk Pathogenic —
RS187949234 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CCDC88C-related disorder
RS187952822 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS1879537034 ATP2A2 Health Risk Pathogenic —
RS187953772 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS187956407 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Joubert syndrome
RS187956469 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3
RS187964306 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Mitochondrial complex II deficiency
RS1879651226 MED13L Health Risk Pathogenic Dextro-looped transposition of the great arteries, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS187965758 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS1879711772 ATP2B1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1879717674 COL4A1 Health Risk Likely pathogenic Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS187972211 ANKH Health Risk Conflicting classifications of pathogenicity Chondrocalcinosis 2, Craniometaphyseal dysplasia
RS187974063 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS187975106 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS187975909 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS187977513 RYR2 Health Risk Conflicting classifications of pathogenicity 6 conditions, Cardiomyopathy
RS187977960 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS187979330 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS187987936 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1879928532 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1879929102 EDNRB Health Risk Likely pathogenic —
RS1879951118 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
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