rs80338666

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(CAA;CAA)	0	common in clinvar

Make rs80338666(-;TTCTTTCAGT)

Make rs80338666(TTCTTTCAGT;TTCTTTCAGT)

Reference

GRCh38 38.1/141

Chromosome

1

Position

235724114

Gene

LYST

is a	snp
is	mentioned by
dbSNP	rs80338666
dbSNP (classic)	rs80338666
ClinGen	rs80338666
ebi	rs80338666
HLI	rs80338666
Exac	rs80338666
Gnomad	rs80338666
Varsome	rs80338666
LitVar	rs80338666
Map	rs80338666
PheGenI	rs80338666
Biobank	rs80338666
1000 genomes	rs80338666
hgdp	rs80338666
ensembl	rs80338666
geneview	rs80338666
scholar	rs80338666
google	rs80338666
pharmgkb	rs80338666
gwascentral	rs80338666
openSNP	rs80338666
23andMe	rs80338666
SNPshot	rs80338666
SNPdbe	rs80338666
MSV3d	rs80338666
GWAS Ctlg	rs80338666

Max Magnitude

0

ClinVar
Risk	rs80338666(TTCTTTCAGT;TTCTTTCAGT)
Alt	rs80338666(TTCTTTCAGT;TTCTTTCAGT)
Reference	Rs80338666(-;-)
Significance	Pathogenic
Disease	Chédiak-Higashi syndrome
Variation	info
Gene	LYST
CLNDBN	Chédiak-Higashi syndrome
Reversed	1
HGVS	NC_000001.10:g.235887414_235887415insACTGAAAGAA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055744.1,