rs869025525, SKI

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.
Shprintzen-Goldberg syndrome
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
21 1.000 0.160 1 2229118 missense variant G/A snv 0.700 0