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rs80338829

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338829(C;T)
Make rs80338829(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position36295069
GeneMYH9
is asnp
is mentioned by
dbSNPrs80338829
ebirs80338829
HLIrs80338829
Exacrs80338829
Varsomers80338829
Maprs80338829
PheGenIrs80338829
hapmaprs80338829
1000 genomesrs80338829
hgdprs80338829
ensemblrs80338829
gopubmedrs80338829
geneviewrs80338829
scholarrs80338829
googlers80338829
pharmgkbrs80338829
gwascentralrs80338829
openSNPrs80338829
23andMers80338829
23andMe allrs80338829
SNP Nexus

SNPshotrs80338829
SNPdbers80338829
MSV3drs80338829
GWAS Ctlgrs80338829
Max Magnitude0
OMIM160775
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80338829(T;T)
Alt rs80338829(T;T)
Reference rs80338829(C;C)
Significance Pathogenic
Disease Sebastian syndrome MYH9 related disorders
Variation info
Gene MYH9
CLNDBN Sebastian syndrome MYH9 related disorders
Reversed 1
HGVS NC_000022.10:g.36691115G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015121.22, RCV000032220.1,


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