Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338667

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338667(-;-)
Make rs80338667(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position235716749
GeneLYST
is asnp
is mentioned by
dbSNPrs80338667
ebirs80338667
HLIrs80338667
Exacrs80338667
Varsomers80338667
Maprs80338667
PheGenIrs80338667
hapmaprs80338667
1000 genomesrs80338667
hgdprs80338667
ensemblrs80338667
gopubmedrs80338667
geneviewrs80338667
scholarrs80338667
googlers80338667
pharmgkbrs80338667
gwascentralrs80338667
openSNPrs80338667
23andMers80338667
23andMe allrs80338667
SNP Nexus

SNPshotrs80338667
SNPdbers80338667
MSV3drs80338667
GWAS Ctlgrs80338667
Max Magnitude0
ClinVar
Risk rs80338667(;)
Alt rs80338667(;)
Reference rs80338667(A;A)
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.235880049delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004016.2, RCV000055745.1,