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rs80338658

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338658(A;A)
Make rs80338658(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position235781018
GeneLYST
is asnp
is mentioned by
dbSNPrs80338658
ebirs80338658
HLIrs80338658
Exacrs80338658
Varsomers80338658
Maprs80338658
PheGenIrs80338658
hapmaprs80338658
1000 genomesrs80338658
hgdprs80338658
ensemblrs80338658
gopubmedrs80338658
geneviewrs80338658
scholarrs80338658
googlers80338658
pharmgkbrs80338658
gwascentralrs80338658
openSNPrs80338658
23andMers80338658
23andMe allrs80338658
SNP Nexus

SNPshotrs80338658
SNPdbers80338658
MSV3drs80338658
GWAS Ctlgrs80338658
Max Magnitude0
ClinVar
Risk rs80338658(A,C;A,C)
Alt rs80338658(A,C;A,C)
Reference rs80338658(T;T)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235944318A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055736.1,