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rs80338663

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338663(A;A)
Make rs80338663(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position235734590
GeneLYST
is asnp
is mentioned by
dbSNPrs80338663
dbSNP (classic)rs80338663
ClinGenrs80338663
ebirs80338663
HLIrs80338663
Exacrs80338663
Gnomadrs80338663
Varsomers80338663
LitVarrs80338663
Maprs80338663
PheGenIrs80338663
Biobankrs80338663
1000 genomesrs80338663
hgdprs80338663
ensemblrs80338663
geneviewrs80338663
scholarrs80338663
googlers80338663
pharmgkbrs80338663
gwascentralrs80338663
openSNPrs80338663
23andMers80338663
SNPshotrs80338663
SNPdbers80338663
MSV3drs80338663
GWAS Ctlgrs80338663
Max Magnitude0
ClinVar
Risk rs80338663(A;A)
Alt rs80338663(A;A)
Reference Rs80338663(G;G)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235897890C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055742.1,