rs376095522, EFL1

N. diseases: 1
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.
Shwachman syndrome
CUI: C0272170
Disease: Shwachman syndrome
13 1.000 15 82130452 missense variant C/T snv 2.8E-05 3.5E-05 0.010 1.000 1 2019 2019