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rs121913656

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913656(C;T)
Make rs121913656(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position36295526
GeneMYH9
is asnp
is mentioned by
dbSNPrs121913656
dbSNP (classic)rs121913656
ClinGenrs121913656
ebirs121913656
HLIrs121913656
Exacrs121913656
Gnomadrs121913656
Varsomers121913656
LitVarrs121913656
Maprs121913656
PheGenIrs121913656
Biobankrs121913656
1000 genomesrs121913656
hgdprs121913656
ensemblrs121913656
geneviewrs121913656
scholarrs121913656
googlers121913656
pharmgkbrs121913656
gwascentralrs121913656
openSNPrs121913656
23andMers121913656
SNPshotrs121913656
SNPdbers121913656
MSV3drs121913656
GWAS Ctlgrs121913656
Max Magnitude0
OMIM160775
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121913656(T;T)
Alt rs121913656(T;T)
Reference Rs121913656(C;C)
Significance Pathogenic
Disease May-Hegglin anomaly Fechtner syndrome
Variation info
Gene MYH9
CLNDBN May-Hegglin anomaly Fechtner syndrome
Reversed 1
HGVS NC_000022.10:g.36691572G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015124.26, RCV000015125.22,