rs80338645

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs80338645(C;T)

Make rs80338645(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

235809278

Gene

LYST

is a	snp
is	mentioned by
dbSNP	rs80338645
dbSNP (classic)	rs80338645
ClinGen	rs80338645
ebi	rs80338645
HLI	rs80338645
Exac	rs80338645
Gnomad	rs80338645
Varsome	rs80338645
LitVar	rs80338645
Map	rs80338645
PheGenI	rs80338645
Biobank	rs80338645
1000 genomes	rs80338645
hgdp	rs80338645
ensembl	rs80338645
geneview	rs80338645
scholar	rs80338645
google	rs80338645
pharmgkb	rs80338645
gwascentral	rs80338645
openSNP	rs80338645
23andMe	rs80338645
SNPshot	rs80338645
SNPdbe	rs80338645
MSV3d	rs80338645
GWAS Ctlg	rs80338645

Max Magnitude

0

ClinVar
Risk	rs80338645(T;T)
Alt	rs80338645(T;T)
Reference	Rs80338645(C;C)
Significance	Pathogenic
Disease	Chédiak-Higashi syndrome
Variation	info
Gene	LYST
CLNDBN	Chédiak-Higashi syndrome
Reversed	1
HGVS	NC_000001.10:g.235972578G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055723.1,