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rs80338834

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338834(A;A)
Make rs80338834(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position36284474
GeneMYH9
is asnp
is mentioned by
dbSNPrs80338834
ebirs80338834
HLIrs80338834
Exacrs80338834
Varsomers80338834
Maprs80338834
PheGenIrs80338834
hapmaprs80338834
1000 genomesrs80338834
hgdprs80338834
ensemblrs80338834
gopubmedrs80338834
geneviewrs80338834
scholarrs80338834
googlers80338834
pharmgkbrs80338834
gwascentralrs80338834
openSNPrs80338834
23andMers80338834
23andMe allrs80338834
SNP Nexus

SNPshotrs80338834
SNPdbers80338834
MSV3drs80338834
GWAS Ctlgrs80338834
Max Magnitude0
OMIM160775
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80338834(A;A)
Alt rs80338834(A;A)
Reference rs80338834(G;G)
Significance Pathogenic
Disease May-Hegglin anomaly Fechtner syndrome MYH9 related disorders
Variation info
Gene MYH9
CLNDBN May-Hegglin anomaly Fechtner syndrome MYH9 related disorders
Reversed 1
HGVS NC_000022.10:g.36680520C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015119.26, RCV000015120.26, RCV000032226.1,


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


[PMID 10973260] Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.