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rs80338653

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(ATC;ATC) 0 common in clinvar
Make rs80338653(-;-)
Make rs80338653(-;A)
Make rs80338653(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position235804624
GeneLYST
is asnp
is mentioned by
dbSNPrs80338653
ebirs80338653
HLIrs80338653
Exacrs80338653
Varsomers80338653
Maprs80338653
PheGenIrs80338653
hapmaprs80338653
1000 genomesrs80338653
hgdprs80338653
ensemblrs80338653
gopubmedrs80338653
geneviewrs80338653
scholarrs80338653
googlers80338653
pharmgkbrs80338653
gwascentralrs80338653
openSNPrs80338653
23andMers80338653
23andMe allrs80338653
SNP Nexus

SNPshotrs80338653
SNPdbers80338653
MSV3drs80338653
GWAS Ctlgrs80338653
Max Magnitude0
ClinVar
Risk rs80338653(A;A)
Alt rs80338653(A;A)
Reference rs80338653(ATC;ATC)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235967925dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000055731.1,