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rs80338654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338654(C;G)
Make rs80338654(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position235793567
GeneLYST
is asnp
is mentioned by
dbSNPrs80338654
ebirs80338654
HLIrs80338654
Exacrs80338654
Varsomers80338654
Maprs80338654
PheGenIrs80338654
hapmaprs80338654
1000 genomesrs80338654
hgdprs80338654
ensemblrs80338654
gopubmedrs80338654
geneviewrs80338654
scholarrs80338654
googlers80338654
pharmgkbrs80338654
gwascentralrs80338654
openSNPrs80338654
23andMers80338654
23andMe allrs80338654
SNP Nexus

SNPshotrs80338654
SNPdbers80338654
MSV3drs80338654
GWAS Ctlgrs80338654
Max Magnitude0
ClinVar
Risk rs80338654(G;G)
Alt rs80338654(G;G)
Reference rs80338654(C;C)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235956867G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000055732.1,