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rs80338656

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338656(-;-)
Make rs80338656(-;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position235791968
GeneLYST
is asnp
is mentioned by
dbSNPrs80338656
dbSNP (classic)rs80338656
ClinGenrs80338656
ebirs80338656
HLIrs80338656
Exacrs80338656
Gnomadrs80338656
Varsomers80338656
LitVarrs80338656
Maprs80338656
PheGenIrs80338656
Biobankrs80338656
1000 genomesrs80338656
hgdprs80338656
ensemblrs80338656
geneviewrs80338656
scholarrs80338656
googlers80338656
pharmgkbrs80338656
gwascentralrs80338656
openSNPrs80338656
23andMers80338656
SNPshotrs80338656
SNPdbers80338656
MSV3drs80338656
GWAS Ctlgrs80338656
Max Magnitude0
ClinVar
Risk rs80338656(-;-)
Alt rs80338656(-;-)
Reference Rs80338656(T;T)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235955268delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000055733.1,