GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ALAD F12Linsufficiently evaluated pathogenicunknown

(84 web hits)

ALAD K59Ninsufficiently evaluated pathogenic, f=0.059undefined

This variant was implicated in causing increased susceptibility to lead poisoning, but evidence was not very significant and later reports have conflicting evidence (may even support a weakly protective effect in a few cases).

(80 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
ALAD K68Ninsufficiently evaluated not reviewed, f=0.055unknown var-GS19649-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS06994-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
ALAD G133Rinsufficiently evaluated pathogenicunknown

(47 web hits)

ALAD R240Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
ALAD R240Winsufficiently evaluated pathogenicunknown

(34 web hits)

ALAD A274Tinsufficiently evaluated pathogenicunknown

(34 web hits)

ALAD V275Minsufficiently evaluated pathogenicunknown

(33 web hits)

ALAD E330Kinsufficiently evaluated noneunknown
Total results: 9

Gene search

"GENE" or "GENE A123C":

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