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 0.800 1.000 5 2010 2019
dbSNP: rs17725246
rs17725246
NPC1L1
4 7 44542387 upstream gene variant T/A;C snv 0.800 1.000 2 2012 2018
dbSNP: rs2073547
rs2073547
NPC1L1
2 7 44542732 upstream gene variant A/G snv 0.24 0.700 1.000 2 2018 2019
dbSNP: rs41279633
rs41279633
NPC1L1
3 1.000 0.080 7 44541277 5 prime UTR variant G/A;T snv 0.12 0.700 1.000 2 2015 2018
dbSNP: rs73107473
rs73107473
NPC1L1
2 7 44538023 intron variant G/A snv 0.12 0.700 1.000 1 2018 2018