rs80338649

Orientation

minus

Stabilized

minus

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

Make rs80338649(-;-)

Make rs80338649(-;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

235806513

Gene

LYST

is a	snp
is	mentioned by
dbSNP	rs80338649
dbSNP (classic)	rs80338649
ClinGen	rs80338649
ebi	rs80338649
HLI	rs80338649
Exac	rs80338649
Gnomad	rs80338649
Varsome	rs80338649
LitVar	rs80338649
Map	rs80338649
PheGenI	rs80338649
Biobank	rs80338649
1000 genomes	rs80338649
hgdp	rs80338649
ensembl	rs80338649
geneview	rs80338649
scholar	rs80338649
google	rs80338649
pharmgkb	rs80338649
gwascentral	rs80338649
openSNP	rs80338649
23andMe	rs80338649
SNPshot	rs80338649
SNPdbe	rs80338649
MSV3d	rs80338649
GWAS Ctlg	rs80338649

Max Magnitude

0

ClinVar
Risk	rs80338649(-;-)
Alt	rs80338649(-;-)
Reference	Rs80338649(T;T)
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.235969813delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004019.2, RCV000055727.1,