Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338647

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338647(-;-)
Make rs80338647(-;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position235806723
GeneLYST
is asnp
is mentioned by
dbSNPrs80338647
ebirs80338647
HLIrs80338647
Exacrs80338647
Varsomers80338647
Maprs80338647
PheGenIrs80338647
hapmaprs80338647
1000 genomesrs80338647
hgdprs80338647
ensemblrs80338647
gopubmedrs80338647
geneviewrs80338647
scholarrs80338647
googlers80338647
pharmgkbrs80338647
gwascentralrs80338647
openSNPrs80338647
23andMers80338647
23andMe allrs80338647
SNP Nexus

SNPshotrs80338647
SNPdbers80338647
MSV3drs80338647
GWAS Ctlgrs80338647
Max Magnitude0
ClinVar
Risk rs80338647(;)
Alt rs80338647(;)
Reference rs80338647(G;G)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235970023delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000055725.1,