rs369445146, PNPLA1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Ichthyosiform Erythroderma, Congenital
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
11 0.925 0.080 6 36291449 missense variant C/A snv 4.0E-06 1.4E-05 0.700 1.000 1 2017 2017
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
CUI: C3554355
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
14 0.925 0.080 6 36291449 missense variant C/A snv 4.0E-06 1.4E-05 0.700 1.000 1 2017 2017