Gene: NPC1L1 ×
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: rs2072183
rs2072183
NPC1L1
6 0.925 0.040 7 44539581 synonymous variant G/A;C snv 4.0E-06; 0.25 0.010 1.000 1 2014 2014
dbSNP: rs217428
rs217428
NPC1L1
1 7 44515974 intron variant T/G snv 0.21 0.26 0.010 1.000 1 2014 2014
dbSNP: rs217434
rs217434
NPC1L1
1 7 44513639 synonymous variant A/G snv 0.16 0.17 0.010 1.000 1 2014 2014