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rs80338828

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338828(A;A)
Make rs80338828(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position36305975
GeneMYH9
is asnp
is mentioned by
dbSNPrs80338828
ebirs80338828
HLIrs80338828
Exacrs80338828
Varsomers80338828
Maprs80338828
PheGenIrs80338828
hapmaprs80338828
1000 genomesrs80338828
hgdprs80338828
ensemblrs80338828
gopubmedrs80338828
geneviewrs80338828
scholarrs80338828
googlers80338828
pharmgkbrs80338828
gwascentralrs80338828
openSNPrs80338828
23andMers80338828
23andMe allrs80338828
SNP Nexus

SNPshotrs80338828
SNPdbers80338828
MSV3drs80338828
GWAS Ctlgrs80338828
Max Magnitude0
OMIM160775
Desc
Variant0008
Relatedalso
ClinVar
Risk rs80338828(A;A)
Alt rs80338828(A;A)
Reference rs80338828(G;G)
Significance Pathogenic
Disease Deafness MYH9 related disorders
Variation info
Gene MYH9
CLNDBN Deafness, autosomal dominant nonsyndromic sensorineural 17 MYH9 related disorders
Reversed 1
HGVS NC_000022.10:g.36702021C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015130.25, RCV000032218.1,


[PMID 9390828] A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration.

[PMID 11023810OA-icon.png] Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.