Gene: NPC1 ×
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: rs372445155
rs372445155
NPC1
7 0.851 0.280 18 23554890 missense variant G/A snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs80358257
rs80358257
NPC1
8 0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04 0.700 0