Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267607042
rs267607042
SETBP1
0.851 0.320 18 44951942 missense variant G/A;C snv
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome 		0.800 1.000 1 2010 2017