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rs80338646

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(AGC;AGC) 0 common in clinvar
Make rs80338646(-;-)
Make rs80338646(-;A)
Make rs80338646(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position235808915
GeneLYST
is asnp
is mentioned by
dbSNPrs80338646
ebirs80338646
HLIrs80338646
Exacrs80338646
Varsomers80338646
Maprs80338646
PheGenIrs80338646
hapmaprs80338646
1000 genomesrs80338646
hgdprs80338646
ensemblrs80338646
gopubmedrs80338646
geneviewrs80338646
scholarrs80338646
googlers80338646
pharmgkbrs80338646
gwascentralrs80338646
openSNPrs80338646
23andMers80338646
23andMe allrs80338646
SNP Nexus

SNPshotrs80338646
SNPdbers80338646
MSV3drs80338646
GWAS Ctlgrs80338646
Max Magnitude0
ClinVar
Risk rs80338646(A;A)
Alt rs80338646(A;A)
Reference rs80338646(AGC;AGC)
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.235972216dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000004015.2, RCV000055724.1,