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rs80338644

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338644(-;-)
Make rs80338644(-;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position235809351
GeneLYST
is asnp
is mentioned by
dbSNPrs80338644
ebirs80338644
HLIrs80338644
Exacrs80338644
Varsomers80338644
Maprs80338644
PheGenIrs80338644
hapmaprs80338644
1000 genomesrs80338644
hgdprs80338644
ensemblrs80338644
gopubmedrs80338644
geneviewrs80338644
scholarrs80338644
googlers80338644
pharmgkbrs80338644
gwascentralrs80338644
openSNPrs80338644
23andMers80338644
23andMe allrs80338644
SNP Nexus

SNPshotrs80338644
SNPdbers80338644
MSV3drs80338644
GWAS Ctlgrs80338644
Max Magnitude0
ClinVar
Risk rs80338644(;)
Alt rs80338644(;)
Reference rs80338644(G;G)
Significance Pathogenic
Disease Chediak-Higashi syndrome Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chediak-Higashi syndrome, childhood type Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235972651delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000004012.2, RCV000055721.1,