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rs756815030

From SNPedia

Orientationplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs756815030(-;-)
Make rs756815030(-;CT)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position23538610
GeneNPC1
is asnp
is mentioned by
dbSNPrs756815030
ebirs756815030
HLIrs756815030
Exacrs756815030
Varsomers756815030
Maprs756815030
PheGenIrs756815030
hapmaprs756815030
1000 genomesrs756815030
hgdprs756815030
ensemblrs756815030
gopubmedrs756815030
geneviewrs756815030
scholarrs756815030
googlers756815030
pharmgkbrs756815030
gwascentralrs756815030
openSNPrs756815030
23andMers756815030
23andMe allrs756815030
SNP Nexus

SNPshotrs756815030
SNPdbers756815030
MSV3drs756815030
GWAS Ctlgrs756815030
Max Magnitude0
ClinVar
Risk rs756815030(;)
Alt rs756815030(;)
Reference rs756815030(CT;CT)
Significance Probable-Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 0
HGVS NC_000018.9:g.21118574_21118575delCT
CLNSRC
CLNACC RCV000169300.1,