rs118203937, CYP4F22

N. diseases: 3
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.
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
38 0.882 0.080 19 15540506 missense variant G/A;T snv 3.6E-05; 4.0E-06 0.800 1.000 1 2006 2006
Congenital ichthyosis
CUI: C0020758
Disease: Congenital ichthyosis
11 0.882 0.080 19 15540506 missense variant G/A;T snv 3.6E-05; 4.0E-06 0.010 1.000 1 2019 2019
Ichthyoses
CUI: C0020757
Disease: Ichthyoses
18 0.882 0.080 19 15540506 missense variant G/A;T snv 3.6E-05; 4.0E-06 0.010 1.000 1 2019 2019