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rs41298135

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs41298135(A;A)
Make rs41298135(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position77158332
GeneMYO7A
is asnp
is mentioned by
dbSNPrs41298135
ebirs41298135
HLIrs41298135
Exacrs41298135
Varsomers41298135
Maprs41298135
PheGenIrs41298135
hapmaprs41298135
1000 genomesrs41298135
hgdprs41298135
ensemblrs41298135
gopubmedrs41298135
geneviewrs41298135
scholarrs41298135
googlers41298135
pharmgkbrs41298135
gwascentralrs41298135
openSNPrs41298135
23andMers41298135
23andMe allrs41298135
SNP Nexus

SNPshotrs41298135
SNPdbers41298135
MSV3drs41298135
GWAS Ctlgrs41298135
GMAF0.001377
Max Magnitude0
OMIM276903
Desc
Variant0006
Relatedalso


ClinVar
Risk rs41298135(A;A) rs41298135(T;T)
Alt rs41298135(A;A) rs41298135(T;T)
Reference Rs41298135(G;G)
Significance Other
Disease Usher syndrome not specified
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1B not specified
Reversed 0
HGVS NC_000011.9:g.76869378G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012626.19, RCV000036251.3,



GET Evidence
MYO7A-R302H
aa_change Arg302His
aa_change_short R302H
impact pathogenic
qualified_impact High clinical importance, Uncertain pathogenic
overall_frequency 0.00170487
summary May cause Usher Type I syndrome in a recessive manner (congenital deafness and loss of vision in childhood), but reports are conflicting and there is no statistical significance in published observations.