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rs879253740

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs879253740(C;C)
Make rs879253740(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position74493191
GeneISCA2, NPC2
is asnp
is mentioned by
dbSNPrs879253740
ebirs879253740
HLIrs879253740
Exacrs879253740
Varsomers879253740
Maprs879253740
PheGenIrs879253740
hapmaprs879253740
1000 genomesrs879253740
hgdprs879253740
ensemblrs879253740
gopubmedrs879253740
geneviewrs879253740
scholarrs879253740
googlers879253740
pharmgkbrs879253740
gwascentralrs879253740
openSNPrs879253740
23andMers879253740
23andMe allrs879253740
SNP Nexus

SNPshotrs879253740
SNPdbers879253740
MSV3drs879253740
GWAS Ctlgrs879253740
Max Magnitude0
ClinVar
Risk rs879253740(C;C)
Alt rs879253740(C;C)
Reference rs879253740(T;T)
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.74959894A>G
CLNSRC
CLNACC RCV000234869.1,