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rs121913655

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913655(C;G)
Make rs121913655(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position36348958
GeneMYH9
is asnp
is mentioned by
dbSNPrs121913655
dbSNP (classic)rs121913655
ClinGenrs121913655
ebirs121913655
HLIrs121913655
Exacrs121913655
Gnomadrs121913655
Varsomers121913655
LitVarrs121913655
Maprs121913655
PheGenIrs121913655
Biobankrs121913655
1000 genomesrs121913655
hgdprs121913655
ensemblrs121913655
geneviewrs121913655
scholarrs121913655
googlers121913655
pharmgkbrs121913655
gwascentralrs121913655
openSNPrs121913655
23andMers121913655
SNPshotrs121913655
SNPdbers121913655
MSV3drs121913655
GWAS Ctlgrs121913655
Max Magnitude0
OMIM160775
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121913655(G;G) rs121913655(T;T)
Alt rs121913655(G;G) rs121913655(T;T)
Reference Rs121913655(C;C)
Significance Pathogenic
Disease May-Hegglin anomaly MYH9 related disorders
Variation info
Gene MYH9
CLNDBN May-Hegglin anomaly MYH9 related disorders
Reversed 1
HGVS NC_000022.10:g.36745003G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015122.22, RCV000192269.1,