Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1805081
rs1805081
NPC1
3 0.925 0.120 18 23560468 missense variant T/C snv 0.33 0.29 0.830 1.000 4 2009 2013