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rs104894574

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 4 Narcolepsy
(T;T) 0 common in clinvar


Make rs104894574(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42184503
GeneHCRT
is asnp
is mentioned by
dbSNPrs104894574
ebirs104894574
HLIrs104894574
Exacrs104894574
Varsomers104894574
Maprs104894574
PheGenIrs104894574
hapmaprs104894574
1000 genomesrs104894574
hgdprs104894574
ensemblrs104894574
gopubmedrs104894574
geneviewrs104894574
scholarrs104894574
googlers104894574
pharmgkbrs104894574
gwascentralrs104894574
openSNPrs104894574
23andMers104894574
23andMe allrs104894574
SNP Nexus

SNPshotrs104894574
SNPdbers104894574
MSV3drs104894574
GWAS Ctlgrs104894574
Max Magnitude4
rs104894574, also known as Leu16Arg or L16R, is a SNP in the hypocretin (orexin) neuropeptide precursor HCRT gene.

In (just) one heterozygous individual, this SNP has been associated with a severe form of narcolepsy.[PMID 10973318]

OMIM602358
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894574(G;G)
Alt rs104894574(G;G)
Reference rs104894574(T;T)
Significance Pathogenic
Disease Narcolepsy 1
Variation info
Gene HCRT
CLNDBN Narcolepsy 1
Reversed 1
HGVS NC_000017.10:g.40336521A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007726.3,