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: rs80358259
rs80358259
NPC1
9 0.851 0.320 18 23536736 missense variant A/G snv 2.0E-04 2.4E-04 0.020 1.000 2 2003 2011
dbSNP: rs28942108
rs28942108
NPC1
3 0.882 0.280 18 23538651 missense variant G/A snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs55724504
rs55724504
NPC1
2 0.925 0.280 18 23534476 synonymous variant C/A;T snv 2.6E-03; 1.3E-04 0.010 1.000 1 2005 2005