rs774906916, EIF2AK4

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.
PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE
CUI: C0340848
Disease: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE
26 0.925 0.120 15 40003301 missense variant C/T snv 1.6E-05 0.700 1.000 1 2015 2015
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
CUI: C3887658
Disease: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
3 0.925 0.120 15 40003301 missense variant C/T snv 1.6E-05 0.010 1.000 1 2018 2018