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rs80338643

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338643(C;T)
Make rs80338643(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position235830270
GeneLYST
is asnp
is mentioned by
dbSNPrs80338643
ebirs80338643
HLIrs80338643
Exacrs80338643
Varsomers80338643
Maprs80338643
PheGenIrs80338643
hapmaprs80338643
1000 genomesrs80338643
hgdprs80338643
ensemblrs80338643
gopubmedrs80338643
geneviewrs80338643
scholarrs80338643
googlers80338643
pharmgkbrs80338643
gwascentralrs80338643
openSNPrs80338643
23andMers80338643
23andMe allrs80338643
SNP Nexus

SNPshotrs80338643
SNPdbers80338643
MSV3drs80338643
GWAS Ctlgrs80338643
Max Magnitude0
OMIM606897
Desc
Variant0006
Relatedalso
ClinVar
Risk rs80338643(T;T)
Alt rs80338643(T;T)
Reference rs80338643(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.235993570G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004017.2, RCV000055722.1,