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rs119103280

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103280(G;T)
Make rs119103280(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position50244277
GeneMYH14
is asnp
is mentioned by
dbSNPrs119103280
dbSNP (classic)rs119103280
ClinGenrs119103280
ebirs119103280
HLIrs119103280
Exacrs119103280
Gnomadrs119103280
Varsomers119103280
LitVarrs119103280
Maprs119103280
PheGenIrs119103280
Biobankrs119103280
1000 genomesrs119103280
hgdprs119103280
ensemblrs119103280
geneviewrs119103280
scholarrs119103280
googlers119103280
pharmgkbrs119103280
gwascentralrs119103280
openSNPrs119103280
23andMers119103280
SNPshotrs119103280
SNPdbers119103280
MSV3drs119103280
GWAS Ctlgrs119103280
GMAF0.002755
Max Magnitude0
OMIM608568
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119103280(T;T)
Alt rs119103280(T;T)
Reference Rs119103280(G;G)
Significance Pathogenic
Disease Deafness not specified not provided
Variation info
Gene MYH14
CLNDBN Deafness, autosomal dominant 4 not specified not provided
Reversed 0
HGVS NC_000019.9:g.50747534G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002283.3, RCV000037022.4, RCV000438830.1,