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: rs1555370868
rs1555370868
YY1 ; MIR6764
1.000 14 100276601 missense variant A/C snv
CUI: C4479652
Disease: GABRIELE-DE VRIES SYNDROME
GABRIELE-DE VRIES SYNDROME 		0.700 1.000 2 2010 2017