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
RS2041984041 KANSL1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2041988738 POLE Health Risk Likely pathogenic —
RS2041989919 POLE Health Risk Pathogenic —
RS2041989992 POLE Health Risk Pathogenic —
RS2041990527 PSMD12 Health Risk Pathogenic/Likely pathogenic Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome
RS2041992812 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2041993956 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042010887 DMXL2 Health Risk Pathogenic —
RS2042021811 POLE Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042023109 POLE Health Risk Pathogenic —
RS2042023669 POLE Health Risk Pathogenic —
RS2042024442 POLE Health Risk Pathogenic —
RS2042025444 POLE Health Risk Likely pathogenic —
RS2042069041 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042070838 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042079691 SLC12A1 Health Risk Pathogenic/Likely pathogenic Bartter syndrome, Bartter syndrome
RS2042109833 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2042123799 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2042124608 SYNJ1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 53
RS2042128326 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2042135430 PIEZO2 Health Risk Likely pathogenic Arthrogryposis, distal
RS2042138847 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Thyroid cancer
RS2042144091 POLE Health Risk Pathogenic —
RS2042144519 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042150698 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042151724 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042163217 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042166568 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042173919 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042176558 POLE Health Risk Pathogenic —
RS2042181751 SETD5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2042188851 SETD5 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2042190198 SETD5 Health Risk Pathogenic —
RS2042190375 SETD5 Health Risk Conflicting classifications of pathogenicity —
RS2042191502 SETD5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2042191795 SETD5 Health Risk Pathogenic/Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2042193330 UNG Health Risk Likely pathogenic Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS2042197714 SETD5 Health Risk Likely pathogenic Moyamoya angiopathy with developmental delay, Moyamoya angiopathy with developmental delay
RS2042198580 POLE Health Risk Pathogenic —
RS2042200333 POLE Health Risk Likely pathogenic —
RS2042205100 POLE Health Risk Pathogenic —
RS2042205289 POLE Health Risk Pathogenic —
RS2042206485 SETD5 Health Risk Pathogenic —
RS2042210578 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, SETD2-related disorder
RS2042212599 POLE Health Risk Pathogenic —
RS2042215003 POLE Health Risk Pathogenic —
RS2042215726 POLE Health Risk Pathogenic —
RS2042216996 POLE Health Risk Pathogenic —
RS2042218001 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042227620 POLE Health Risk Pathogenic —
RS2042252455 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS2042262374 SETD5 Health Risk Pathogenic Cleft palate, Intellectual disability
RS2042266753 SETD5 Health Risk Pathogenic —
RS2042271732 SETD5 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2042301516 GRIN2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2042303226 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2042316930 NALCN Health Risk Pathogenic —
RS2042342323 OCA2 Health Risk Pathogenic —
RS2042344677 SYNJ1 Health Risk Pathogenic —
RS2042349678 POLE Health Risk Pathogenic —
RS2042349830 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS2042361612 POLE Health Risk Pathogenic —
RS2042362718 POLE Health Risk Pathogenic —
RS2042365082 NEDD4L Health Risk Conflicting classifications of pathogenicity —
RS2042376634 POLE Health Risk Pathogenic —
RS2042376718 POLE Health Risk Pathogenic —
RS2042378606 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042379484 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042382246 CNOT1 Health Risk Likely pathogenic Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS2042382430 CNOT1 Health Risk Pathogenic Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS2042382744 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS2042383988 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042387354 OCA2 Health Risk Pathogenic —
RS2042417862 QARS1 Health Risk Likely pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS2042419194 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2042438780 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS2042442594 HDAC4 Health Risk Pathogenic/Likely pathogenic Severe intellectual disability, Neurodevelopmental disorder with central hypotonia and dysmorphic facies
RS2042447540 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2042447850 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2042448519 GRIN2A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2042448930 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2042449005 GRIN2A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Landau-Kleffner syndrome
RS2042450868 GRIN2A Health Risk Pathogenic —
RS2042451238 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS2042451819 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS2042472129 QARS1 Health Risk Likely pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS2042480125 OCA2 Health Risk Likely pathogenic —
RS2042496890 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2042497215 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, See cases
RS2042500119 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS2042510074 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS2042511461 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS2042518770 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS2042560955 POLE Health Risk Likely pathogenic —
RS2042561671 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042562353 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2042570213 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related polyposis and colorectal cancer syndrome
RS2042581336 POLE Health Risk Pathogenic —
RS2042625844 OCA2 Health Risk Pathogenic —
RS2042626867 POLE Health Risk Pathogenic —
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