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rs80338827

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338827(A;A)
Make rs80338827(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position36305984
GeneMYH9
is asnp
is mentioned by
dbSNPrs80338827
ebirs80338827
HLIrs80338827
Exacrs80338827
Varsomers80338827
Maprs80338827
PheGenIrs80338827
hapmaprs80338827
1000 genomesrs80338827
hgdprs80338827
ensemblrs80338827
gopubmedrs80338827
geneviewrs80338827
scholarrs80338827
googlers80338827
pharmgkbrs80338827
gwascentralrs80338827
openSNPrs80338827
23andMers80338827
23andMe allrs80338827
SNP Nexus

SNPshotrs80338827
SNPdbers80338827
MSV3drs80338827
GWAS Ctlgrs80338827
Max Magnitude0
OMIM160775
Desc
Variant0009
Relatedalso
ClinVar
Risk rs80338827(A;A)
Alt rs80338827(A;A)
Reference rs80338827(G;G)
Significance Pathogenic
Disease Fechtner syndrome Epstein syndrome MYH9 related disorders
Variation info
Gene MYH9
CLNDBN Fechtner syndrome Epstein syndrome MYH9 related disorders
Reversed 1
HGVS NC_000022.10:g.36702030C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015132.28, RCV000015133.28, RCV000032217.1,


[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.

[PMID 11935325] Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.