rs11555096, FAH

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.
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
2575 1.000 15 80180184 missense variant C/A;T snv 1.7E-02 0.700 1.000 2 2018 2018
Deficiency of maleylacetoacetate isomerase
CUI: C1291607
Disease: Deficiency of maleylacetoacetate isomerase
4 1.000 15 80180184 missense variant C/A;T snv 1.7E-02 0.010 1.000 1 2018 2018