rs80338665

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(AAATGTGGAATGTATTTTGTGGAAGATAATGCTTCTGATACAGTTGAAAGTTCGGT;AAATGTGGAATGTATTTTGTGGAAGATAATGCTTCTGATACAGTTGAAAGTTCGGT)	0	common in clinvar
(I;I)	0	common genotype
(TAAATGTGGAATGTATTTTGTGGAAGATAATGCTTCTGATACAGTTGAAAGTTCGG;TAAATGTGGAATGTATTTTGTGGAAGATAATGCTTCTGATACAGTTGAAAGTTCGG)	0	common in clinvar

Make rs80338665(-;-)

Make rs80338665(-;GTAAATGTGGAATGTATTTTGTGGAAGATAATGCTTCTGATACAGTTGAAAGTTCG)

Make rs80338665(GTAAATGTGGAATGTATTTTGTGGAAGATAATGCTTCTGATACAGTTGAAAGTTCG;GTAAATGTGGAATGTATTTTGTGGAAGATAATGCTTCTGATACAGTTGAAAGTTCG)

Reference

GRCh38 38.1/141

Chromosome

1

Position

235728076

Gene

LYST

is a	snp
is	mentioned by
dbSNP	rs80338665
dbSNP (classic)	rs80338665
ClinGen	rs80338665
ebi	rs80338665
HLI	rs80338665
Exac	rs80338665
Gnomad	rs80338665
Varsome	rs80338665
LitVar	rs80338665
Map	rs80338665
PheGenI	rs80338665
Biobank	rs80338665
1000 genomes	rs80338665
hgdp	rs80338665
ensembl	rs80338665
geneview	rs80338665
scholar	rs80338665
google	rs80338665
pharmgkb	rs80338665
gwascentral	rs80338665
openSNP	rs80338665
23andMe	rs80338665
SNPshot	rs80338665
SNPdbe	rs80338665
MSV3d	rs80338665
GWAS Ctlg	rs80338665

Max Magnitude

0

ClinVar
Risk	rs80338665(-;-)
Alt	rs80338665(-;-)
Reference	Rs80338665(AAATGTGGAATGTATTTTGTGGAAGATAATGCTTCTGATACAGTTGAAAGTTCGGT;AAATGTGGAATGTATTTTGTGGAAGATAATGCTTCTGATACAGTTGAAAGTTCGGT)
Significance	Pathogenic
Disease	Chédiak-Higashi syndrome
Variation	info
Gene	LYST
CLNDBN	Chédiak-Higashi syndrome
Reversed	1
HGVS	NC_000001.10:g.235891376_235891431del56
CLNSRC	dbVar
CLNACC	RCV000033871.2,