rs104894574

Orientation

minus

Stabilized

minus

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

Make rs104894574(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

42184503

Gene

HCRT

is a	snp
is	mentioned by
dbSNP	rs104894574
dbSNP (classic)	rs104894574
ClinGen	rs104894574
ebi	rs104894574
HLI	rs104894574
Exac	rs104894574
Gnomad	rs104894574
Varsome	rs104894574
LitVar	rs104894574
Map	rs104894574
PheGenI	rs104894574
Biobank	rs104894574
1000 genomes	rs104894574
hgdp	rs104894574
ensembl	rs104894574
geneview	rs104894574
scholar	rs104894574
google	rs104894574
pharmgkb	rs104894574
gwascentral	rs104894574
openSNP	rs104894574
23andMe	rs104894574
SNPshot	rs104894574
SNPdbe	rs104894574
MSV3d	rs104894574
GWAS Ctlg	rs104894574

Max Magnitude

4

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]

OMIM	602358
Desc
Variant	0001
Related	also

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 UniProtKB (protein)
CLNACC	RCV000007726.3,