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rs876661319

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs876661319(A;G)
Make rs876661319(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome18
Position23536791
GeneNPC1
is asnp
is mentioned by
dbSNPrs876661319
ebirs876661319
HLIrs876661319
Exacrs876661319
Varsomers876661319
Maprs876661319
PheGenIrs876661319
hapmaprs876661319
1000 genomesrs876661319
hgdprs876661319
ensemblrs876661319
gopubmedrs876661319
geneviewrs876661319
scholarrs876661319
googlers876661319
pharmgkbrs876661319
gwascentralrs876661319
openSNPrs876661319
23andMers876661319
23andMe allrs876661319
SNP Nexus

SNPshotrs876661319
SNPdbers876661319
MSV3drs876661319
GWAS Ctlgrs876661319
Max Magnitude0
ClinVar
Risk rs876661319(G;G)
Alt rs876661319(G;G)
Reference rs876661319(A;A)
Significance Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 1
HGVS NC_000018.9:g.21116755T>C
CLNSRC
CLNACC RCV000223886.1,