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rs80338648

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338648(-;-)
Make rs80338648(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position235806682
GeneLYST
is asnp
is mentioned by
dbSNPrs80338648
ebirs80338648
HLIrs80338648
Exacrs80338648
Varsomers80338648
Maprs80338648
PheGenIrs80338648
hapmaprs80338648
1000 genomesrs80338648
hgdprs80338648
ensemblrs80338648
gopubmedrs80338648
geneviewrs80338648
scholarrs80338648
googlers80338648
pharmgkbrs80338648
gwascentralrs80338648
openSNPrs80338648
23andMers80338648
23andMe allrs80338648
SNP Nexus

SNPshotrs80338648
SNPdbers80338648
MSV3drs80338648
GWAS Ctlgrs80338648
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs80338648(A;A)
Significance Pathogenic
Disease Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235969982delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000055726.1,