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rs121913657

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913657(C;T)
Make rs121913657(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position36348950
GeneMYH9
is asnp
is mentioned by
dbSNPrs121913657
dbSNP (classic)rs121913657
ClinGenrs121913657
ebirs121913657
HLIrs121913657
Exacrs121913657
Gnomadrs121913657
Varsomers121913657
LitVarrs121913657
Maprs121913657
PheGenIrs121913657
Biobankrs121913657
1000 genomesrs121913657
hgdprs121913657
ensemblrs121913657
geneviewrs121913657
scholarrs121913657
googlers121913657
pharmgkbrs121913657
gwascentralrs121913657
openSNPrs121913657
23andMers121913657
SNPshotrs121913657
SNPdbers121913657
MSV3drs121913657
GWAS Ctlgrs121913657
Max Magnitude0
OMIM160775
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121913657(T;T)
Alt rs121913657(T;T)
Reference Rs121913657(C;C)
Significance Pathogenic
Disease Epstein syndrome MYH9 related disorders Deafness
Variation info
Gene MYH9
CLNDBN Epstein syndrome MYH9 related disorders Deafness, autosomal dominant nonsyndromic sensorineural 17
Reversed 1
HGVS NC_000022.10:g.36744995G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015138.22, RCV000055880.1, RCV000477821.1,