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
RS1560002147 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
RS1560002959 ARL13B Health Risk Pathogenic/Likely pathogenic Joubert syndrome 8, Joubert syndrome
RS1560014115 NPHP3 Health Risk Pathogenic/Likely pathogenic NPHP3-related Meckel-like syndrome, Nephronophthisis 3
RS1560014265 NPHP3 Health Risk Conflicting classifications of pathogenicity —
RS1560017341 SI Health Risk Likely pathogenic —
RS1560017690 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1560017781 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS1560026402 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1560031341 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1560033414 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1560033613 ATP2C1 Health Risk Pathogenic Familial benign pemphigus, Familial benign pemphigus
RS1560034617 POGLUT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2R1, Autosomal recessive limb-girdle muscular dystrophy type 2R1
RS1560035336 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1560040369 DNAJC19 Health Risk Pathogenic 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5
RS1560041195 OPA1 Health Risk Pathogenic —
RS1560045738 P2RY12 Health Risk Pathogenic Platelet-type bleeding disorder 8, Platelet-type bleeding disorder 8
RS1560046529 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1560046837 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 4, Retinal dystrophy
RS1560046845 RHO Health Risk Pathogenic Neuropathy, congenital hypomyelinating
RS1560062082 STAG1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 47
RS1560063136 LAMB2 Health Risk Pathogenic Pierson syndrome, Pierson syndrome
RS1560066873 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS1560069336 MED12L Health Risk Likely pathogenic Nizon-Isidor syndrome, Nizon-Isidor syndrome
RS1560070780 PLS1 Health Risk Likely pathogenic Hearing impairment, Hearing loss
RS1560072794 LAMB2 Health Risk Pathogenic Pierson syndrome, Pierson syndrome
RS1560075787 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS1560075930 LAMB2 Health Risk Pathogenic Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS1560079213 CCDC39 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1560082927 ATP13A3 Health Risk Pathogenic Pulmonary arterial hypertension, Pulmonary hypertension
RS1560086701 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Heterotaxy
RS1560090006 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1560092083 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1560092160 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1560092224 ZBTB20 Health Risk Pathogenic Clinodactyly of the 4th toe, Moderate global developmental delay
RS1560092440 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1560092633 ZBTB20 Health Risk Pathogenic Primrose syndrome, Primrose syndrome
RS1560092712 CCDC39 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1560098548 TBL1XR1 Health Risk Likely pathogenic Pierpont syndrome, Pierpont syndrome
RS1560102245 ZNF148 Health Risk Likely pathogenic —
RS1560103306 MED12L Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1560106851 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1560108090 MED12L Health Risk Pathogenic Intellectual disability, Nizon-Isidor syndrome
RS1560108537 EIF2B5 Health Risk Likely pathogenic Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 5
RS1560110565 ZBTB20 Health Risk Pathogenic Primrose syndrome, Primrose syndrome
RS1560113283 TREX1 Health Risk Pathogenic Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS1560115921 MED12L Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1560117033 TBL1XR1 Health Risk Likely pathogenic —
RS1560118923 MECOM Health Risk Pathogenic —
RS1560120302 RPL35A Health Risk Pathogenic Diamond-Blackfan anemia 5, Diamond-Blackfan anemia
RS1560121645 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Curry-Hall syndrome
RS1560121685 PDE6B Health Risk Pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS1560122302 PDE6B Health Risk Pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS1560126707 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1560127636 IFT57 Health Risk Likely pathogenic Orofaciodigital syndrome 18, Orofaciodigital syndrome 18
RS1560134806 PDE6B Health Risk Pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS1560135485 GFM1 Health Risk Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1560137208 PIK3CA Health Risk Pathogenic CLAPO syndrome, CLAPO syndrome
RS1560137609 PIK3CA Health Risk Likely pathogenic Familial cancer of breast, PIK3CA related overgrowth syndrome
RS1560141393 RAB28 Health Risk Likely pathogenic Cone-rod dystrophy 18, Cone-rod dystrophy 18
RS1560161567 ALG3 Health Risk Pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS1560162116 ALG3 Health Risk Pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS1560164682 ALG3 Health Risk Likely pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS1560165127 NKX3-2 Health Risk Pathogenic/Likely pathogenic Spondylo-megaepiphyseal-metaphyseal dysplasia, Spondylo-megaepiphyseal-metaphyseal dysplasia
RS1560166488 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1560166511 CC2D2A Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 6
RS1560166870 ALG3 Health Risk Pathogenic ALG3-congenital disorder of glycosylation, ALG3-congenital disorder of glycosylation
RS1560171734 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1560171992 MRAS Health Risk Likely pathogenic RASopathy, RASopathy
RS1560172761 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1560177950 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1560180188 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1560180583 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1560184664 CC2D2A Health Risk Likely pathogenic COACH syndrome 1, Joubert syndrome 9
RS1560187743 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1560188288 CC2D2A Health Risk Pathogenic —
RS1560196405 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1560196436 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1560199860 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1560200657 COL7A1 Health Risk Likely pathogenic —
RS1560200925 DOK7 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS1560204600 COL7A1 Health Risk Pathogenic COL7A1-related disorder, Recessive dystrophic epidermolysis bullosa
RS1560204773 TP63 Health Risk Likely pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1560206805 COL7A1 Health Risk Likely pathogenic —
RS1560208675 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1560210381 COL7A1 Health Risk Pathogenic —
RS1560212751 DOCK3 Health Risk Likely pathogenic Hypotonia, Global developmental delay
RS1560219171 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS1560224024 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder
RS1560224831 DOK7 Health Risk Pathogenic/Likely pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS1560231816 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS1560232515 COL7A1 Health Risk Pathogenic/Likely pathogenic Transient bullous dermolysis of the newborn, 7 conditions
RS1560234201 COL7A1 Health Risk Pathogenic —
RS1560237346 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS1560241522 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1560243788 COL7A1 Health Risk Pathogenic —
RS1560245772 COL7A1 Health Risk Likely pathogenic —
RS1560255134 TTN Health Risk Conflicting classifications of pathogenicity —
RS1560255926 MASP1 Health Risk Pathogenic 3MC syndrome 1, 3MC syndrome 1
RS1560255987 CLCN2 Health Risk Pathogenic —
RS1560256569 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
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