Rs119103280

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Orientationplus
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
Exacrs119103280
PheGenIrs119103280
nextbiors119103280
hapmaprs119103280
1000 genomesrs119103280
hgdprs119103280
ensemblrs119103280
gopubmedrs119103280
geneviewrs119103280
scholarrs119103280
googlers119103280
pharmgkbrs119103280
gwascentralrs119103280
openSNPrs119103280
23andMers119103280
23andMe allrs119103280
SNP Nexus

SNPshotrs119103280
SNPdbers119103280
MSV3drs119103280
GMAF0.002755
OMIM608568
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119103280(T;T)
Alt rs119103280(T;T)
Reference rs119103280(G;G)
Significance Pathogenic
Disease Deafness AllHighlyPenetrant
Variation info
Gene MYH14
CLNDBN Deafness, autosomal dominant 4 AllHighlyPenetrant
Reversed 0
HGVS NC_000019.9:g.50747534G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002283.1, RCV000037022.1,