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rs41298133

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs41298133(C;T)
Make rs41298133(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position77156969
GeneMYO7A
is asnp
is mentioned by
dbSNPrs41298133
ebirs41298133
HLIrs41298133
Exacrs41298133
Varsomers41298133
Maprs41298133
PheGenIrs41298133
hapmaprs41298133
1000 genomesrs41298133
hgdprs41298133
ensemblrs41298133
gopubmedrs41298133
geneviewrs41298133
scholarrs41298133
googlers41298133
pharmgkbrs41298133
gwascentralrs41298133
openSNPrs41298133
23andMers41298133
23andMe allrs41298133
SNP Nexus

SNPshotrs41298133
SNPdbers41298133
MSV3drs41298133
GWAS Ctlgrs41298133
Max Magnitude0
OMIM276903
Desc
Variant0002
Relatedalso


ClinVar
Risk rs41298133(T;T)
Alt rs41298133(T;T)
Reference rs41298133(C;C)
Significance Pathogenic
Disease Usher syndrome Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1B Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76868015C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012622.25, RCV000036246.2,



[PMID 7870171] Defective myosin VIIA gene responsible for Usher syndrome type 1B.


[PMID 9002678] Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.