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rs80338666

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(CAA;CAA) 0 common in clinvar
Make rs80338666(-;-)
Make rs80338666(-;TTCTTTCAGT)
Make rs80338666(TTCTTTCAGT;TTCTTTCAGT)
ReferenceGRCh38 38.1/141
Chromosome1
Position235724114
GeneLYST
is asnp
is mentioned by
dbSNPrs80338666
ebirs80338666
HLIrs80338666
Exacrs80338666
Varsomers80338666
Maprs80338666
PheGenIrs80338666
hapmaprs80338666
1000 genomesrs80338666
hgdprs80338666
ensemblrs80338666
gopubmedrs80338666
geneviewrs80338666
scholarrs80338666
googlers80338666
pharmgkbrs80338666
gwascentralrs80338666
openSNPrs80338666
23andMers80338666
23andMe allrs80338666
SNP Nexus

SNPshotrs80338666
SNPdbers80338666
MSV3drs80338666
GWAS Ctlgrs80338666
Max Magnitude0
ClinVar
Risk rs80338666(TTCTTTCAGT;TTCTTTCAGT)
Alt rs80338666(TTCTTTCAGT;TTCTTTCAGT)
Reference rs80338666(CAA;CAA)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235887414_235887415insACTGAAAGAA
CLNSRC ClinVar GeneReviews
CLNACC RCV000055744.1,