rs80338642

Orientation

minus

Stabilized

minus

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

Make rs80338642(-;G)

Make rs80338642(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

235830299

Gene

LYST

is a	snp
is	mentioned by
dbSNP	rs80338642
dbSNP (classic)	rs80338642
ClinGen	rs80338642
ebi	rs80338642
HLI	rs80338642
Exac	rs80338642
Gnomad	rs80338642
Varsome	rs80338642
LitVar	rs80338642
Map	rs80338642
PheGenI	rs80338642
Biobank	rs80338642
1000 genomes	rs80338642
hgdp	rs80338642
ensembl	rs80338642
geneview	rs80338642
scholar	rs80338642
google	rs80338642
pharmgkb	rs80338642
gwascentral	rs80338642
openSNP	rs80338642
23andMe	rs80338642
SNPshot	rs80338642
SNPdbe	rs80338642
MSV3d	rs80338642
GWAS Ctlg	rs80338642

Max Magnitude

0

ClinVar
Risk	rs80338642(G;G)
Alt	rs80338642(G;G)
Reference	Rs80338642(-;-)
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.235993600dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004014.2, RCV000055720.1,