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rs80338651

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338651(C;T)
Make rs80338651(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position235806051
GeneLYST
is asnp
is mentioned by
dbSNPrs80338651
ebirs80338651
HLIrs80338651
Exacrs80338651
Varsomers80338651
Maprs80338651
PheGenIrs80338651
hapmaprs80338651
1000 genomesrs80338651
hgdprs80338651
ensemblrs80338651
gopubmedrs80338651
geneviewrs80338651
scholarrs80338651
googlers80338651
pharmgkbrs80338651
gwascentralrs80338651
openSNPrs80338651
23andMers80338651
23andMe allrs80338651
SNP Nexus

SNPshotrs80338651
SNPdbers80338651
MSV3drs80338651
GWAS Ctlgrs80338651
Max Magnitude0
OMIM606897
Desc
Variant0007
Relatedalso
ClinVar
Risk rs80338651(T;T)
Alt rs80338651(T;T)
Reference rs80338651(C;C)
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.235969351G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004018.2, RCV000055729.1,