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
RS2151161955 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS2151162445 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151162449 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151162471 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151162486 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151162501 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151163791 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151163995 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151164000 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151164019 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151164052 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2151164702 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS2151165414 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2151165798 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151165848 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151166047 BLM Health Risk Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151166065 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151166250 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151168473 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151168530 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS2151168593 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS2151168637 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS2151168687 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151168879 SYNGAP1 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151169133 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151169266 WDR81 Health Risk Pathogenic/Likely pathogenic Hydrocephalus, congenital
RS2151169721 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151170014 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS2151170078 SYNGAP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2151170227 SYNGAP1 Health Risk Likely pathogenic —
RS2151170644 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS2151170996 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS2151171193 TSC2 Health Risk Pathogenic Lymphangiomyomatosis, Lymphangiomyomatosis
RS2151171287 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS2151171434 SYNGAP1;SYNGAP1-AS1 Health Risk Likely pathogenic —
RS2151172286 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151172356 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151172438 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS2151172527 SYNGAP1 Health Risk Pathogenic —
RS2151172644 SYNGAP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 5
RS2151172652 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151172748 SYNGAP1 Health Risk Pathogenic/Likely pathogenic SYNGAP1-related encephalopathy, Intellectual disability
RS2151177215 WDR81 Health Risk Likely pathogenic —
RS2151178019 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151178044 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151178187 BLM Health Risk Likely pathogenic —
RS2151179928 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151179952 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151180361 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS2151181087 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151181120 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS2151181124 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS2151181133 SYNGAP1 Health Risk Pathogenic —
RS2151182244 CSNK2B Health Risk Likely pathogenic Autosomal dominant non-syndromic intellectual disability, Poirier-Bienvenu neurodevelopmental syndrome
RS2151182460 SYNGAP1 Health Risk Likely pathogenic —
RS2151182679 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS2151183929 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151184555 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151184585 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151184718 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151184759 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151185341 CSNK2B Health Risk Pathogenic/Likely pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2151185359 CSNK2B Health Risk Pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2151185393 CSNK2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2151185431 CSNK2B Health Risk Likely pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2151187149 CSNK2B Health Risk Likely pathogenic —
RS2151187172 CSNK2B Health Risk Likely pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2151187267 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151187292 CSNK2B Health Risk Pathogenic CSNK2B-related intellectual disability with or without epilepsy, CSNK2B-related intellectual disability with or without epilepsy
RS2151187323 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151187334 CSNK2B Health Risk Likely pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2151187350 CSNK2B Health Risk Likely pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Melanoma
RS2151187381 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151188152 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151188291 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151188326 SYNGAP1 Health Risk Pathogenic —
RS2151188333 CSNK2B Health Risk Pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2151188371 CSNK2B Health Risk Pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2151188416 CSNK2B Health Risk Pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2151188723 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151188756 CSNK2B Health Risk Pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2151188789 CSNK2B Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Poirier-Bienvenu neurodevelopmental syndrome
RS2151188797 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151188826 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151188873 CSNK2B Health Risk Conflicting classifications of pathogenicity Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2151188896 CSNK2B Health Risk Pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2151188903 CSNK2B Health Risk Pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2151188947 CSNK2B Health Risk Conflicting classifications of pathogenicity Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2151188957 CSNK2B Health Risk Pathogenic Neurodevelopmental disorder, Inborn genetic diseases
RS2151189070 CSNK2B Health Risk Likely pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2151189482 SYNGAP1 Health Risk Conflicting classifications of pathogenicity —
RS2151189840 CSNK2B Health Risk Likely pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS2151189924 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151190116 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151190135 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS2151190159 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151190319 TSC2 Health Risk Pathogenic Lymphangiomyomatosis, Lymphangiomyomatosis
RS2151190466 SYNGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 5
RS2151190588 SYNGAP1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2151190617 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
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