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rs80338835

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338835(C;T)
Make rs80338835(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position36282754
GeneMYH9
is asnp
is mentioned by
dbSNPrs80338835
ebirs80338835
HLIrs80338835
Exacrs80338835
Varsomers80338835
Maprs80338835
PheGenIrs80338835
hapmaprs80338835
1000 genomesrs80338835
hgdprs80338835
ensemblrs80338835
gopubmedrs80338835
geneviewrs80338835
scholarrs80338835
googlers80338835
pharmgkbrs80338835
gwascentralrs80338835
openSNPrs80338835
23andMers80338835
23andMe allrs80338835
SNP Nexus

SNPshotrs80338835
SNPdbers80338835
MSV3drs80338835
GWAS Ctlgrs80338835
Max Magnitude0
OMIM160775
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80338835(T;T)
Alt rs80338835(T;T)
Reference rs80338835(C;C)
Significance Pathogenic
Disease May-Hegglin anomaly Fechtner syndrome Sebastian syndrome MYH9 related disorders
Variation info
Gene MYH9
CLNDBN May-Hegglin anomaly Fechtner syndrome Sebastian syndrome MYH9 related disorders
Reversed 1
HGVS NC_000022.10:g.36678800G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015116.26, RCV000015117.26, RCV000015118.26, RCV000032227.1,


[PMID 10739770OA-icon.png] The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1.

[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.