rs80338667

Orientation

minus

Stabilized

minus

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

Make rs80338667(-;-)

Make rs80338667(-;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

235716749

Gene

LYST

is a	snp
is	mentioned by
dbSNP	rs80338667
dbSNP (classic)	rs80338667
ClinGen	rs80338667
ebi	rs80338667
HLI	rs80338667
Exac	rs80338667
Gnomad	rs80338667
Varsome	rs80338667
LitVar	rs80338667
Map	rs80338667
PheGenI	rs80338667
Biobank	rs80338667
1000 genomes	rs80338667
hgdp	rs80338667
ensembl	rs80338667
geneview	rs80338667
scholar	rs80338667
google	rs80338667
pharmgkb	rs80338667
gwascentral	rs80338667
openSNP	rs80338667
23andMe	rs80338667
SNPshot	rs80338667
SNPdbe	rs80338667
MSV3d	rs80338667
GWAS Ctlg	rs80338667

Max Magnitude

0

ClinVar
Risk	rs80338667(-;-)
Alt	rs80338667(-;-)
Reference	Rs80338667(A;A)
Significance	Pathogenic
Disease	Chediak-Higashi syndrome Chédiak-Higashi syndrome
Variation	info
Gene	LYST
CLNDBN	Chediak-Higashi syndrome, childhood type Chédiak-Higashi syndrome
Reversed	1
HGVS	NC_000001.10:g.235880049delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004016.2, RCV000055745.1,