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rs28942077

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28942077(A;A)
Make rs28942077(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position235766204
GeneLYST
is asnp
is mentioned by
dbSNPrs28942077
ebirs28942077
HLIrs28942077
Exacrs28942077
Varsomers28942077
Maprs28942077
PheGenIrs28942077
hapmaprs28942077
1000 genomesrs28942077
hgdprs28942077
ensemblrs28942077
gopubmedrs28942077
geneviewrs28942077
scholarrs28942077
googlers28942077
pharmgkbrs28942077
gwascentralrs28942077
openSNPrs28942077
23andMers28942077
23andMe allrs28942077
SNP Nexus

SNPshotrs28942077
SNPdbers28942077
MSV3drs28942077
GWAS Ctlgrs28942077
Max Magnitude0
OMIM606897
DescCHEDIAK-HIGASHI SYNDROME, ADULT TYPE
Variant0010
Relatedalso


ClinVar
Risk rs28942077(A;A)
Alt rs28942077(A;A)
Reference rs28942077(T;T)
Significance Pathogenic
Disease Chediak-Higashi syndrome Chédiak-Higashi syndrome
Variation info
Gene LYST
CLNDBN Chediak-Higashi syndrome, adult type Chédiak-Higashi syndrome
Reversed 1
HGVS NC_000001.10:g.235929504A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004021.2, RCV000055738.1,