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rs786200879

From SNPedia

Orientationminus
Geno Mag Summary
(TTAC;TTAC) 0 common in clinvar
Make rs786200879(-;-)
Make rs786200879(-;TTAC)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position23533495
GeneNPC1
is asnp
is mentioned by
dbSNPrs786200879
ebirs786200879
HLIrs786200879
Exacrs786200879
Varsomers786200879
Maprs786200879
PheGenIrs786200879
hapmaprs786200879
1000 genomesrs786200879
hgdprs786200879
ensemblrs786200879
gopubmedrs786200879
geneviewrs786200879
scholarrs786200879
googlers786200879
pharmgkbrs786200879
gwascentralrs786200879
openSNPrs786200879
23andMers786200879
23andMe allrs786200879
SNP Nexus

SNPshotrs786200879
SNPdbers786200879
MSV3drs786200879
GWAS Ctlgrs786200879
Max Magnitude0
ClinVar
Risk rs786200879(;)
Alt rs786200879(;)
Reference rs786200879(TTAC;TTAC)
Significance Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene C18orf8 NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 1
HGVS NC_000018.9:g.21113459_21113462delGTAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000003113.3,