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
RS1760754570 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1760766212 GCK Health Risk Pathogenic —
RS1760796647 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation syndrome
RS1760801995 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS1760808499 GABRG2 Health Risk Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS1760810320 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1760844159 CTNNA1 Health Risk Pathogenic —
RS1760848495 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1760856538 CTNNA1 Health Risk Pathogenic —
RS1760858446 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1760863025 MEF2C Health Risk Pathogenic —
RS1760870278 SGCD Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS1760889495 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1760890595 SYNGAP1-AS1;SYNGAP1 Health Risk Pathogenic —
RS1760890843 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS1760891716 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1760891782 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1760891950 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS1760893537 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1760896816 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1760897529 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1760897843 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1760904978 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS1760905282 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1760905358 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1760905766 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1760906699 SYNGAP1 Health Risk Pathogenic —
RS1760914246 MIR5004;SYNGAP1;SYNGAP1-AS1 Health Risk Likely pathogenic —
RS1760918521 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS1760930568 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS1760930644 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS1760931697 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS1760935231 SYNGAP1 Health Risk Likely pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1760957806 CYFIP2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 65
RS1760985866 GABRB2 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1760997136 F13A1 Health Risk Pathogenic Factor XIII, A subunit
RS1761006182 PDE6A Health Risk Pathogenic —
RS1761010170 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1761010258 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1761011229 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1761011834 CYFIP2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 65
RS1761012352 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1761021165 SYNGAP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 5
RS1761021575 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1761021773 TULP1 Health Risk Pathogenic Stargardt disease, Retinal dystrophy
RS1761022430 TULP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1761023588 DOCK2 Health Risk Pathogenic DOCK2 deficiency, DOCK2 deficiency
RS1761037096 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1761049027 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS1761050922 SYNGAP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1761066725 TULP1 Health Risk Pathogenic Leber congenital amaurosis 15, Leber congenital amaurosis 15
RS1761067394 TULP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 14, Leber congenital amaurosis
RS1761067640 TULP1 Health Risk Pathogenic Leber congenital amaurosis 15, Leber congenital amaurosis 15
RS1761069157 TULP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1761073125 PDE6A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1761074706 PDE6A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1761087122 SYNGAP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 5
RS1761088462 DDX41 Health Risk Likely pathogenic —
RS1761092414 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS1761093088 DDX41 Health Risk Pathogenic —
RS1761093830 SYNGAP1 Health Risk Likely pathogenic —
RS1761096151 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS1761097601 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS1761103055 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1761103512 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS1761108186 SYNGAP1-AS1;SYNGAP1 Health Risk Pathogenic —
RS1761113561 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS1761118961 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1761120879 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1761145210 DDX41 Health Risk Pathogenic/Likely pathogenic DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS1761147951 TULP1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1761153296 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1761157188 TULP1 Health Risk Pathogenic —
RS1761157695 DDX41 Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS1761158425 TULP1 Health Risk Pathogenic Leber congenital amaurosis 15, Retinitis pigmentosa 14
RS1761160392 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1761160732 CYFIP2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 65
RS1761161294 TULP1 Health Risk Pathogenic Leber congenital amaurosis 15, Leber congenital amaurosis 15
RS1761161860 CYFIP2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 65
RS1761183827 TULP1 Health Risk Likely pathogenic —
RS1761185782 TULP1 Health Risk Pathogenic —
RS1761188243 TULP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1761207751 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1761208393 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1761209473 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1761210688 SYNGAP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1761212075 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1761224205 TULP1 Health Risk Likely pathogenic Leber congenital amaurosis 15, Leber congenital amaurosis 15
RS1761231844 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1761241320 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1761241410 SYNGAP1;SYNGAP1-AS1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1761259465 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1761279419 SLC12A2 Health Risk Pathogenic Delpire-McNeill syndrome, Delpire-McNeill syndrome
RS1761282406 KCNN2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Global developmental delay
RS1761282515 KCNN2 Health Risk Likely pathogenic Cerebellar ataxia, Intellectual disability
RS1761282724 KCNN2 Health Risk Pathogenic Global developmental delay, Mild intellectual disability
RS1761341113 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1761341362 RASA1 Health Risk Likely pathogenic Inborn genetic diseases, Familial cancer of breast
RS1761346424 NKX2-5 Health Risk Likely pathogenic Atrial septal defect 7, Atrial septal defect 7
RS1761351808 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
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