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: rs1788799
rs1788799
NPC1
2 1.000 0.080 18 23544981 missense variant C/A;G;T snv 4.2E-06; 0.73 0.010 1.000 1 2012 2012
dbSNP: rs1805081
rs1805081
NPC1
3 0.925 0.120 18 23560468 missense variant T/C snv 0.33 0.29 0.010 1.000 1 2012 2012