rs80338648

Orientation

minus

Stabilized

minus

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

Make rs80338648(-;-)

Make rs80338648(-;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

235806682

Gene

LYST

is a	snp
is	mentioned by
dbSNP	rs80338648
dbSNP (classic)	rs80338648
ClinGen	rs80338648
ebi	rs80338648
HLI	rs80338648
Exac	rs80338648
Gnomad	rs80338648
Varsome	rs80338648
LitVar	rs80338648
Map	rs80338648
PheGenI	rs80338648
Biobank	rs80338648
1000 genomes	rs80338648
hgdp	rs80338648
ensembl	rs80338648
geneview	rs80338648
scholar	rs80338648
google	rs80338648
pharmgkb	rs80338648
gwascentral	rs80338648
openSNP	rs80338648
23andMe	rs80338648
SNPshot	rs80338648
SNPdbe	rs80338648
MSV3d	rs80338648
GWAS Ctlg	rs80338648

Max Magnitude

0

ClinVar
Risk	rs80338648(-;-)
Alt	rs80338648(-;-)
Reference	Rs80338648(A;A)
Significance	Pathogenic
Disease	Chédiak-Higashi syndrome
Variation	info
Gene	LYST
CLNDBN	Chédiak-Higashi syndrome
Reversed	1
HGVS	NC_000001.10:g.235969982delT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055726.1,