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rs797044431

From SNPedia

Orientationminus
Make rs797044431(-;-)
Make rs797044431(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position23536878
GeneNPC1
is asnp
is mentioned by
dbSNPrs797044431
ebirs797044431
HLIrs797044431
Exacrs797044431
Varsomers797044431
Maprs797044431
PheGenIrs797044431
hapmaprs797044431
1000 genomesrs797044431
hgdprs797044431
ensemblrs797044431
gopubmedrs797044431
geneviewrs797044431
scholarrs797044431
googlers797044431
pharmgkbrs797044431
gwascentralrs797044431
openSNPrs797044431
23andMers797044431
23andMe allrs797044431
SNP Nexus

SNPshotrs797044431
SNPdbers797044431
MSV3drs797044431
GWAS Ctlgrs797044431
Max Magnitude
ClinVar
Risk rs797044431(;)
Alt rs797044431(;)
Reference rs797044431(A;A)
Significance Pathogenic
Disease Niemann-pick disease
Variation info
Gene NPC1
CLNDBN Niemann-pick disease, type c1, adult form
Reversed 1
HGVS NC_000018.9:g.21116842delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000003097.3,