rs80338653

Orientation

minus

Stabilized

minus

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

Make rs80338653(-;A)

Make rs80338653(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

235804624

Gene

LYST

is a	snp
is	mentioned by
dbSNP	rs80338653
dbSNP (classic)	rs80338653
ClinGen	rs80338653
ebi	rs80338653
HLI	rs80338653
Exac	rs80338653
Gnomad	rs80338653
Varsome	rs80338653
LitVar	rs80338653
Map	rs80338653
PheGenI	rs80338653
Biobank	rs80338653
1000 genomes	rs80338653
hgdp	rs80338653
ensembl	rs80338653
geneview	rs80338653
scholar	rs80338653
google	rs80338653
pharmgkb	rs80338653
gwascentral	rs80338653
openSNP	rs80338653
23andMe	rs80338653
SNPshot	rs80338653
SNPdbe	rs80338653
MSV3d	rs80338653
GWAS Ctlg	rs80338653

Max Magnitude

0

ClinVar
Risk	rs80338653(A;A)
Alt	rs80338653(A;A)
Reference	Rs80338653(-;-)
Significance	Pathogenic
Disease	Chédiak-Higashi syndrome
Variation	info
Gene	LYST
CLNDBN	Chédiak-Higashi syndrome
Reversed	1
HGVS	NC_000001.10:g.235967925dupT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055731.1,