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rs80358252

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80358252(A;A)
Make rs80358252(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position23561461
GeneNPC1
is asnp
is mentioned by
dbSNPrs80358252
ebirs80358252
HLIrs80358252
Exacrs80358252
Varsomers80358252
Maprs80358252
PheGenIrs80358252
hapmaprs80358252
1000 genomesrs80358252
hgdprs80358252
ensemblrs80358252
gopubmedrs80358252
geneviewrs80358252
scholarrs80358252
googlers80358252
pharmgkbrs80358252
gwascentralrs80358252
openSNPrs80358252
23andMers80358252
23andMe allrs80358252
SNP Nexus

SNPshotrs80358252
SNPdbers80358252
MSV3drs80358252
GWAS Ctlgrs80358252
Max Magnitude0
OMIM607623
Desc
Variant0018
Relatedalso
ClinVar
Risk rs80358252(A;A)
Alt rs80358252(A;A)
Reference rs80358252(G;G)
Significance Other
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 1
HGVS NC_000018.9:g.21141425C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003108.5,


[PMID 16098014] Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.