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: rs769455
rs769455
0.827 0.120 19 44908783 missense variant C/T snv 1.4E-03 6.9E-03
CUI: C0302164
Disease: Tuberous xanthoma
Tuberous xanthoma
0.010 1.000 1 2006 2006