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rs80338649

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338649(-;-)
Make rs80338649(-;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position235806513
GeneLYST
is asnp
is mentioned by
dbSNPrs80338649
ebirs80338649
HLIrs80338649
Exacrs80338649
Varsomers80338649
Maprs80338649
PheGenIrs80338649
hapmaprs80338649
1000 genomesrs80338649
hgdprs80338649
ensemblrs80338649
gopubmedrs80338649
geneviewrs80338649
scholarrs80338649
googlers80338649
pharmgkbrs80338649
gwascentralrs80338649
openSNPrs80338649
23andMers80338649
23andMe allrs80338649
SNP Nexus

SNPshotrs80338649
SNPdbers80338649
MSV3drs80338649
GWAS Ctlgrs80338649
Max Magnitude0
ClinVar
Risk rs80338649(;)
Alt rs80338649(;)
Reference rs80338649(T;T)
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.235969813delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004019.2, RCV000055727.1,