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
RS1582764528 PRPH2 Health Risk Pathogenic Macular dystrophy, PRPH2-related disorder
RS1582764600 PRPH2 Health Risk Likely pathogenic Patterned macular dystrophy 1, Patterned macular dystrophy 1
RS1582764697 PRPH2 Health Risk Likely pathogenic Patterned macular dystrophy 1, PRPH2-related disorder
RS1582764714 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, PRPH2-related disorder
RS1582764765 PRPH2 Health Risk Pathogenic —
RS1582764878 PRPH2 Health Risk Pathogenic Retinitis pigmentosa, PRPH2-related disorder
RS1582771457 HACE1 Health Risk Likely pathogenic Psychomotor retardation, Psychomotor retardation
RS1582774605 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1582780550 PRPH2 Health Risk Likely pathogenic Retinal dystrophy, Stargardt disease
RS1582780842 PRPH2 Health Risk Pathogenic/Likely pathogenic Macular dystrophy, Macular dystrophy
RS1582811858 COL10A1 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, Schmid type
RS1582811912 COL10A1 Health Risk Pathogenic —
RS1582812173 COL10A1 Health Risk Likely pathogenic —
RS1582831184 HIVEP2 Health Risk Pathogenic —
RS1582831406 HIVEP2 Health Risk Pathogenic —
RS1582842042 HIVEP2 Health Risk Pathogenic —
RS1582842733 HIVEP2 Health Risk Likely pathogenic —
RS1582843150 HIVEP2 Health Risk Pathogenic Angelman syndrome-like, Angelman syndrome-like
RS1582849711 SKIC3 Health Risk Likely pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS1582849807 SKIC3 Health Risk Likely pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS1582865345 DNAH8 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1582867955 LATS1 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1582892979 TNFAIP3 Health Risk Pathogenic —
RS1582908829 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1582923790 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia 1
RS1582925274 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS1582928662 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1582929649 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS1582930081 EYS Health Risk Pathogenic Retinitis punctata albescens, Retinitis pigmentosa 25
RS1582930536 EYS Health Risk Pathogenic —
RS1582931640 DHX16 Health Risk Pathogenic/Likely pathogenic Multiple renal cysts, Reduced renal corticomedullary differentiation
RS1582931908 DHX16 Health Risk Pathogenic Intellectual disability, Neurodevelopmental delay
RS1582932254 EYS Health Risk Pathogenic —
RS1582932583 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1582935082 EPM2A Health Risk Conflicting classifications of pathogenicity Myoclonic epilepsy, progressive
RS1582940678 DHX16 Health Risk Pathogenic/Likely pathogenic 6 conditions, Neurodevelopmental disorders
RS1582953009 DHX16 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental delay, Intellectual disability
RS1582953433 PRKN Health Risk Likely pathogenic Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS1582955358 PLG Health Risk Pathogenic Hereditary angioedema with normal C1Inh, Angioedema
RS1582957532 RMND1 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11
RS1582970514 RMND1 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11
RS1583013487 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1583026682 ARID1B Health Risk Pathogenic —
RS1583026884 ARID1B Health Risk Pathogenic —
RS1583027141 ARID1B Health Risk Conflicting classifications of pathogenicity ARID1B-related BAFopathy, ARID1B-related BAFopathy
RS1583053996 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1583054534 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1583066622 CITED2 Health Risk Likely pathogenic Atrial septal defect 8, Atrial septal defect 8
RS1583103432 PPIL1 Health Risk Pathogenic/Likely pathogenic Congenital pontocerebellar hypoplasia, Pontocerebellar hypoplasia
RS1583133314 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1583133494 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1583149141 LAMA2 Health Risk Pathogenic Congenital Muscular Dystrophy, LAMA2-related
RS1583151308 DLL1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS1583152162 DLL1 Health Risk Pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Inborn genetic diseases
RS1583155981 EPM2A Health Risk Likely pathogenic —
RS1583157635 DLL1 Health Risk Pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS1583158315 DLL1 Health Risk Pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS1583169005 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1583169151 LAMA2 Health Risk Pathogenic Hypotonia, Merosin deficient congenital muscular dystrophy
RS1583169165 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1583179845 AHI1 Health Risk Pathogenic Joubert syndrome 1, Joubert syndrome
RS1583202788 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1583203255 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1583208411 MYO6 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1583215504 PRKN Health Risk Likely pathogenic Autosomal recessive juvenile Parkinson disease 2, Ovarian cancer
RS1583219849 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1583223171 TRAF3IP2 Health Risk Pathogenic Discoid lupus erythematosus, Discoid lupus erythematosus
RS1583225922 TRAF3IP2 Health Risk Pathogenic Candidiasis, familial
RS1583232513 AP5Z1 Health Risk Likely pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS1583242286 RNASET2 Health Risk Pathogenic Cystic leukoencephalopathy without megalencephaly, Cystic leukoencephalopathy without megalencephaly
RS1583260302 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1583269216 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1583269666 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1583270185 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1583275773 PDE10A Health Risk Conflicting classifications of pathogenicity Infantile-onset generalized dyskinesia with orofacial involvement, Striatal degeneration
RS1583276758 AHI1 Health Risk Likely pathogenic Joubert syndrome 1, Joubert syndrome 1
RS1583277585 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1583279842 ARID1B Health Risk Pathogenic —
RS1583280025 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1583280152 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1583281760 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1583285344 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1583285552 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS1583286301 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1583286414 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1583287711 COL11A2 Health Risk Pathogenic Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS1583295819 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1583298873 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1583299686 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1583313823 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1583314135 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1583314932 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1583315513 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1583315717 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1583316404 PMS2 Health Risk Pathogenic Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
RS1583318494 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1583319050 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1583319590 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1583319965 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1583320215 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
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