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rs80338670

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338670(-;-)
Make rs80338670(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position235697252
GeneLYST
is asnp
is mentioned by
dbSNPrs80338670
dbSNP (classic)rs80338670
ClinGenrs80338670
ebirs80338670
HLIrs80338670
Exacrs80338670
Gnomadrs80338670
Varsomers80338670
LitVarrs80338670
Maprs80338670
PheGenIrs80338670
Biobankrs80338670
1000 genomesrs80338670
hgdprs80338670
ensemblrs80338670
geneviewrs80338670
scholarrs80338670
googlers80338670
pharmgkbrs80338670
gwascentralrs80338670
openSNPrs80338670
23andMers80338670
SNPshotrs80338670
SNPdbers80338670
MSV3drs80338670
GWAS Ctlgrs80338670
Max Magnitude0
ClinVar
Risk rs80338670(-;-)
Alt rs80338670(-;-)
Reference Rs80338670(A;A)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235860552delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000055719.1,