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rs758902805

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs758902805(G;T)
Make rs758902805(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position23533495
GeneNPC1
is asnp
is mentioned by
dbSNPrs758902805
ebirs758902805
HLIrs758902805
Exacrs758902805
Varsomers758902805
Maprs758902805
PheGenIrs758902805
hapmaprs758902805
1000 genomesrs758902805
hgdprs758902805
ensemblrs758902805
gopubmedrs758902805
geneviewrs758902805
scholarrs758902805
googlers758902805
pharmgkbrs758902805
gwascentralrs758902805
openSNPrs758902805
23andMers758902805
23andMe allrs758902805
SNP Nexus

SNPshotrs758902805
SNPdbers758902805
MSV3drs758902805
GWAS Ctlgrs758902805
Max Magnitude0
ClinVar
Risk rs758902805(T;T)
Alt rs758902805(T;T)
Reference rs758902805(G;G)
Significance Probable-Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene C18orf8 NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 0
HGVS NC_000018.9:g.21113459G>T
CLNSRC
CLNACC RCV000169061.1,