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rs80338657

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338657(A;A)
Make rs80338657(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position235788701
GeneLYST
is asnp
is mentioned by
dbSNPrs80338657
ebirs80338657
HLIrs80338657
Exacrs80338657
Varsomers80338657
Maprs80338657
PheGenIrs80338657
hapmaprs80338657
1000 genomesrs80338657
hgdprs80338657
ensemblrs80338657
gopubmedrs80338657
geneviewrs80338657
scholarrs80338657
googlers80338657
pharmgkbrs80338657
gwascentralrs80338657
openSNPrs80338657
23andMers80338657
23andMe allrs80338657
SNP Nexus

SNPshotrs80338657
SNPdbers80338657
MSV3drs80338657
GWAS Ctlgrs80338657
Max Magnitude0
OMIM606897
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80338657(A;A)
Alt rs80338657(A;A)
Reference rs80338657(G;G)
Significance Pathogenic
Disease Chediak-Higashi syndrome Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chediak-Higashi syndrome, adult type Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235952001C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004020.2, RCV000055735.1,