Have questions? Visit https://www.reddit.com/r/SNPedia

rs483352893

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs483352893(C;C)
Make rs483352893(C;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position74493272
GeneISCA2, NPC2
is asnp
is mentioned by
dbSNPrs483352893
ebirs483352893
HLIrs483352893
Exacrs483352893
Varsomers483352893
Maprs483352893
PheGenIrs483352893
hapmaprs483352893
1000 genomesrs483352893
hgdprs483352893
ensemblrs483352893
gopubmedrs483352893
geneviewrs483352893
scholarrs483352893
googlers483352893
pharmgkbrs483352893
gwascentralrs483352893
openSNPrs483352893
23andMers483352893
23andMe allrs483352893
SNP Nexus

SNPshotrs483352893
SNPdbers483352893
MSV3drs483352893
GWAS Ctlgrs483352893
Max Magnitude0
ClinVar
Risk rs483352893(C,T;C,T)
Alt rs483352893(C,T;C,T)
Reference rs483352893(G;G)
Significance Pathogenic
Disease Niemann-Pick disease type C2
Variation info
Gene ISCA2 NPC2
CLNDBN Niemann-Pick disease type C2
Reversed 1
HGVS NC_000014.8:g.74959975C>G
CLNSRC ClinVar
CLNACC RCV000119339.1,