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rs80338642

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(GCA;GCA) 0 common in clinvar
Make rs80338642(-;-)
Make rs80338642(-;G)
Make rs80338642(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position235830299
GeneLYST
is asnp
is mentioned by
dbSNPrs80338642
ebirs80338642
HLIrs80338642
Exacrs80338642
Varsomers80338642
Maprs80338642
PheGenIrs80338642
hapmaprs80338642
1000 genomesrs80338642
hgdprs80338642
ensemblrs80338642
gopubmedrs80338642
geneviewrs80338642
scholarrs80338642
googlers80338642
pharmgkbrs80338642
gwascentralrs80338642
openSNPrs80338642
23andMers80338642
23andMe allrs80338642
SNP Nexus

SNPshotrs80338642
SNPdbers80338642
MSV3drs80338642
GWAS Ctlgrs80338642
Max Magnitude0
ClinVar
Risk rs80338642(G;G)
Alt rs80338642(G;G)
Reference rs80338642(GCA;GCA)
Significance Pathogenic
Disease Chediak-Higashi syndrome Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chediak-Higashi syndrome, childhood type Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235993600dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000004014.2, RCV000055720.1,