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rs80338659

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338659(-;-)
Make rs80338659(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position235777206
GeneLYST
is asnp
is mentioned by
dbSNPrs80338659
dbSNP (classic)rs80338659
ClinGenrs80338659
ebirs80338659
HLIrs80338659
Exacrs80338659
Gnomadrs80338659
Varsomers80338659
LitVarrs80338659
Maprs80338659
PheGenIrs80338659
Biobankrs80338659
1000 genomesrs80338659
hgdprs80338659
ensemblrs80338659
geneviewrs80338659
scholarrs80338659
googlers80338659
pharmgkbrs80338659
gwascentralrs80338659
openSNPrs80338659
23andMers80338659
SNPshotrs80338659
SNPdbers80338659
MSV3drs80338659
GWAS Ctlgrs80338659
Max Magnitude0
ClinVar
Risk rs80338659(-;-)
Alt rs80338659(-;-)
Reference Rs80338659(A;A)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235940506delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000055737.1,