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rs111033448

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033448(-;-)
Make rs111033448(-;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position77156685
GeneMYO7A
is asnp
is mentioned by
dbSNPrs111033448
ebirs111033448
HLIrs111033448
Exacrs111033448
Varsomers111033448
Maprs111033448
PheGenIrs111033448
hapmaprs111033448
1000 genomesrs111033448
hgdprs111033448
ensemblrs111033448
gopubmedrs111033448
geneviewrs111033448
scholarrs111033448
googlers111033448
pharmgkbrs111033448
gwascentralrs111033448
openSNPrs111033448
23andMers111033448
23andMe allrs111033448
SNP Nexus

SNPshotrs111033448
SNPdbers111033448
MSV3drs111033448
GWAS Ctlgrs111033448
Max Magnitude0
ClinVar
Risk rs111033448(;)
Alt rs111033448(;)
Reference rs111033448(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76867731delG
CLNSRC ClinVar
CLNACC RCV000036171.2,


[PMID 18181211] Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.