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rs80338650

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs80338650(-;-)
Make rs80338650(-;AA)
ReferenceGRCh38 38.1/141
Chromosome1
Position235806062
GeneLYST
is asnp
is mentioned by
dbSNPrs80338650
ebirs80338650
HLIrs80338650
Exacrs80338650
Varsomers80338650
Maprs80338650
PheGenIrs80338650
hapmaprs80338650
1000 genomesrs80338650
hgdprs80338650
ensemblrs80338650
gopubmedrs80338650
geneviewrs80338650
scholarrs80338650
googlers80338650
pharmgkbrs80338650
gwascentralrs80338650
openSNPrs80338650
23andMers80338650
23andMe allrs80338650
SNP Nexus

SNPshotrs80338650
SNPdbers80338650
MSV3drs80338650
GWAS Ctlgrs80338650
Max Magnitude0
ClinVar
Risk rs80338650(;)
Alt rs80338650(;)
Reference rs80338650(AA;AA)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235969362_235969363delTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000055728.1,