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rs80338669

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338669(A;G)
Make rs80338669(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position235709107
GeneLYST
is asnp
is mentioned by
dbSNPrs80338669
dbSNP (classic)rs80338669
ClinGenrs80338669
ebirs80338669
HLIrs80338669
Exacrs80338669
Gnomadrs80338669
Varsomers80338669
LitVarrs80338669
Maprs80338669
PheGenIrs80338669
Biobankrs80338669
1000 genomesrs80338669
hgdprs80338669
ensemblrs80338669
geneviewrs80338669
scholarrs80338669
googlers80338669
pharmgkbrs80338669
gwascentralrs80338669
openSNPrs80338669
23andMers80338669
SNPshotrs80338669
SNPdbers80338669
MSV3drs80338669
GWAS Ctlgrs80338669
Max Magnitude0
ClinVar
Risk rs80338669(G;G)
Alt rs80338669(G;G)
Reference Rs80338669(A;A)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235872407T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000055718.1,