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rs80338660

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338660(A;A)
Make rs80338660(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position235766122
GeneLYST
is asnp
is mentioned by
dbSNPrs80338660
dbSNP (classic)rs80338660
ClinGenrs80338660
ebirs80338660
HLIrs80338660
Exacrs80338660
Gnomadrs80338660
Varsomers80338660
LitVarrs80338660
Maprs80338660
PheGenIrs80338660
Biobankrs80338660
1000 genomesrs80338660
hgdprs80338660
ensemblrs80338660
geneviewrs80338660
scholarrs80338660
googlers80338660
pharmgkbrs80338660
gwascentralrs80338660
openSNPrs80338660
23andMers80338660
SNPshotrs80338660
SNPdbers80338660
MSV3drs80338660
GWAS Ctlgrs80338660
Max Magnitude0
ClinVar
Risk rs80338660(A;A) rs80338660(G;G) rs80338660(T;T)
Alt rs80338660(A;A) rs80338660(G;G) rs80338660(T;T)
Reference Rs80338660(C;C)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235929422G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055739.1,