rs28942077

Orientation

minus

Stabilized

minus

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

Make rs28942077(A;A)

Make rs28942077(A;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

235766204

Gene

LYST

is a	snp
is	mentioned by
dbSNP	rs28942077
dbSNP (classic)	rs28942077
ClinGen	rs28942077
ebi	rs28942077
HLI	rs28942077
Exac	rs28942077
Gnomad	rs28942077
Varsome	rs28942077
LitVar	rs28942077
Map	rs28942077
PheGenI	rs28942077
Biobank	rs28942077
1000 genomes	rs28942077
hgdp	rs28942077
ensembl	rs28942077
geneview	rs28942077
scholar	rs28942077
google	rs28942077
pharmgkb	rs28942077
gwascentral	rs28942077
openSNP	rs28942077
23andMe	rs28942077
SNPshot	rs28942077
SNPdbe	rs28942077
MSV3d	rs28942077
GWAS Ctlg	rs28942077

Max Magnitude

0

OMIM	606897
Desc	CHEDIAK-HIGASHI SYNDROME, ADULT TYPE
Variant	0010
Related	also

ClinVar
Risk	rs28942077(A;A)
Alt	rs28942077(A;A)
Reference	Rs28942077(T;T)
Significance	Pathogenic
Disease	Chediak-Higashi syndrome Chédiak-Higashi syndrome
Variation	info
Gene	LYST
CLNDBN	Chediak-Higashi syndrome, adult type Chédiak-Higashi syndrome
Reversed	1
HGVS	NC_000001.10:g.235929504A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004021.2, RCV000055738.1,