rs113993998, SBDS

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 7 66988472 stop gained G/A snv 8.0E-06 0.700 0