Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338662

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338662(-;-)
Make rs80338662(-;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position235752077
GeneLYST
is asnp
is mentioned by
dbSNPrs80338662
dbSNP (classic)rs80338662
ClinGenrs80338662
ebirs80338662
HLIrs80338662
Exacrs80338662
Gnomadrs80338662
Varsomers80338662
LitVarrs80338662
Maprs80338662
PheGenIrs80338662
Biobankrs80338662
1000 genomesrs80338662
hgdprs80338662
ensemblrs80338662
geneviewrs80338662
scholarrs80338662
googlers80338662
pharmgkbrs80338662
gwascentralrs80338662
openSNPrs80338662
23andMers80338662
SNPshotrs80338662
SNPdbers80338662
MSV3drs80338662
GWAS Ctlgrs80338662
Max Magnitude0
ClinVar
Risk rs80338662(-;-)
Alt rs80338662(-;-)
Reference Rs80338662(T;T)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235915377delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000055741.1,