GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
DRD2 V154Iinsufficiently evaluated pathogenic, f=0.000unknown

(9 web hits)

DRD2 R230Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
DRD2 S282Cinsufficiently evaluated noneunknown
DRD2 P310Sinsufficiently evaluated not reviewedunknown

Similar functional effects to

DRD2 S311Cuncertain pathogenic, f=0.017dominant

Various studies report this variant in a dopamine receptor is associated with increased risk for schizophrenia. Assuming an average 1% chance of schizophrenia in the general population, combined data suggests carriers of this variant have a risk of 1.4% (0.4% increased risk above average).

(73 web hits)

hu34D5B9 exome
CGI sample GS000006909 (hom)
Total results: 5

Gene search

"GENE" or "GENE A123C":

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