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rs797044540

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATACAA;ATACAA) 0 common in clinvar
Make rs797044540(-;-)
Make rs797044540(-;ATACAA)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position235712150
GeneLYST
is asnp
is mentioned by
dbSNPrs797044540
ClinGenrs797044540
ebirs797044540
HLIrs797044540
Exacrs797044540
Varsomers797044540
Maprs797044540
PheGenIrs797044540
hapmaprs797044540
1000 genomesrs797044540
hgdprs797044540
ensemblrs797044540
gopubmedrs797044540
geneviewrs797044540
scholarrs797044540
googlers797044540
pharmgkbrs797044540
gwascentralrs797044540
openSNPrs797044540
23andMers797044540
23andMe allrs797044540
SNP Nexus

SNPshotrs797044540
SNPdbers797044540
MSV3drs797044540
GWAS Ctlgrs797044540
Max Magnitude0
ClinVar
Risk rs797044540(-;-)
Alt rs797044540(-;-)
Reference Rs797044540(ATACAA;ATACAA)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235875450_235875455delTTGTAT
CLNSRC
CLNACC RCV000192050.1,