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: rs1808579
rs1808579
NPC1 ; RMC1
3 18 23524924 intron variant C/T snv 0.47 0.700 1.000 4 2015 2019
dbSNP: rs1788820
rs1788820
NPC1 ; RMC1
1 18 23521980 intron variant A/G snv 0.69 0.700 1.000 2 2017 2018
dbSNP: rs177430
rs177430
NPC1 ; RMC1
4 18 23506161 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1788799
rs1788799
NPC1
2 1.000 0.080 18 23544981 missense variant C/A;G;T snv 4.2E-06; 0.73 0.700 1.000 1 2018 2018
dbSNP: rs1788808
rs1788808
NPC1 ; RMC1
1 18 23510059 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs6507716
rs6507716
NPC1
1 18 23535096 intron variant A/G snv 0.51 0.700 1.000 1 2015 2015
dbSNP: rs891387
rs891387
NPC1 ; RMC1
2 18 23523945 intron variant T/C snv 0.55 0.700 1.000 1 2019 2019