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rs369098773

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs369098773(C;C)
Make rs369098773(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position23534471
GeneNPC1
is asnp
is mentioned by
dbSNPrs369098773
dbSNP (classic)rs369098773
ClinGenrs369098773
ebirs369098773
HLIrs369098773
Exacrs369098773
Gnomadrs369098773
Varsomers369098773
LitVarrs369098773
Maprs369098773
PheGenIrs369098773
Biobankrs369098773
1000 genomesrs369098773
hgdprs369098773
ensemblrs369098773
geneviewrs369098773
scholarrs369098773
googlers369098773
pharmgkbrs369098773
gwascentralrs369098773
openSNPrs369098773
23andMers369098773
23andMe allrs369098773
SNPshotrs369098773
SNPdbers369098773
MSV3drs369098773
GWAS Ctlgrs369098773
Max Magnitude0
ClinVar
Risk rs369098773(C;C)
Alt rs369098773(C;C)
Reference Rs369098773(T;T)
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.21114435T>C
CLNSRC
CLNACC RCV000412462.1,