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rs80338652

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338652(C;T)
Make rs80338652(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position235805826
GeneLYST
is asnp
is mentioned by
dbSNPrs80338652
ebirs80338652
HLIrs80338652
Exacrs80338652
Varsomers80338652
Maprs80338652
PheGenIrs80338652
hapmaprs80338652
1000 genomesrs80338652
hgdprs80338652
ensemblrs80338652
gopubmedrs80338652
geneviewrs80338652
scholarrs80338652
googlers80338652
pharmgkbrs80338652
gwascentralrs80338652
openSNPrs80338652
23andMers80338652
23andMe allrs80338652
SNP Nexus

SNPshotrs80338652
SNPdbers80338652
MSV3drs80338652
GWAS Ctlgrs80338652
Max Magnitude0
OMIM606897
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80338652(T;T)
Alt rs80338652(T;T)
Reference rs80338652(C;C)
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.235969126G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004013.2, RCV000055730.1,