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rs80338668

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338668(-;-)
Make rs80338668(-;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position235712089
GeneLYST
is asnp
is mentioned by
dbSNPrs80338668
dbSNP (classic)rs80338668
ClinGenrs80338668
ebirs80338668
HLIrs80338668
Exacrs80338668
Gnomadrs80338668
Varsomers80338668
LitVarrs80338668
Maprs80338668
PheGenIrs80338668
Biobankrs80338668
1000 genomesrs80338668
hgdprs80338668
ensemblrs80338668
geneviewrs80338668
scholarrs80338668
googlers80338668
pharmgkbrs80338668
gwascentralrs80338668
openSNPrs80338668
23andMers80338668
SNPshotrs80338668
SNPdbers80338668
MSV3drs80338668
GWAS Ctlgrs80338668
Max Magnitude0
ClinVar
Risk rs80338668(-;-)
Alt rs80338668(-;-)
Reference Rs80338668(T;T)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235875389delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000055746.1,