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rs80338826

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338826(C;T)
Make rs80338826(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position36305985
GeneMYH9
is asnp
is mentioned by
dbSNPrs80338826
ebirs80338826
HLIrs80338826
Exacrs80338826
Varsomers80338826
Maprs80338826
PheGenIrs80338826
hapmaprs80338826
1000 genomesrs80338826
hgdprs80338826
ensemblrs80338826
gopubmedrs80338826
geneviewrs80338826
scholarrs80338826
googlers80338826
pharmgkbrs80338826
gwascentralrs80338826
openSNPrs80338826
23andMers80338826
23andMe allrs80338826
SNP Nexus

SNPshotrs80338826
SNPdbers80338826
MSV3drs80338826
GWAS Ctlgrs80338826
Max Magnitude0
OMIM160775
Desc
Variant0006
Relatedalso
ClinVar
Risk rs80338826(T;T)
Alt rs80338826(T;T)
Reference rs80338826(C;C)
Significance Pathogenic
Disease Fechtner syndrome Epstein syndrome Sebastian syndrome May-Hegglin anomaly MYH9 related disorders
Variation info
Gene MYH9
CLNDBN Fechtner syndrome Epstein syndrome Sebastian syndrome May-Hegglin anomaly MYH9 related disorders
Reversed 1
HGVS NC_000022.10:g.36702031G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015126.24, RCV000015127.28, RCV000015128.28, RCV000015129.28, RCV000032216.1,


[PMID 10973259] Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

[PMID 11590545OA-icon.png] Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.