Have questions? Visit https://www.reddit.com/r/SNPedia

rs28942107

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28942107(C;T)
Make rs28942107(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position23536814
GeneNPC1
is asnp
is mentioned by
dbSNPrs28942107
ebirs28942107
HLIrs28942107
Exacrs28942107
Varsomers28942107
Maprs28942107
PheGenIrs28942107
hapmaprs28942107
1000 genomesrs28942107
hgdprs28942107
ensemblrs28942107
gopubmedrs28942107
geneviewrs28942107
scholarrs28942107
googlers28942107
pharmgkbrs28942107
gwascentralrs28942107
openSNPrs28942107
23andMers28942107
23andMe allrs28942107
SNP Nexus

SNPshotrs28942107
SNPdbers28942107
MSV3drs28942107
GWAS Ctlgrs28942107
Max Magnitude0
OMIM607623
DescNiemann-Pick disease, TYPE C1
Variant0016
Relatedalso
Neighborrs28942104
Distance3
ClinVar
Risk rs28942107(T;T)
Alt rs28942107(T;T)
Reference rs28942107(C;C)
Significance Pathogenic
Disease Niemann-Pick disease type C1 not provided
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1 not provided
Reversed 1
HGVS NC_000018.9:g.21116778G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000003106.2, RCV000078477.3,