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rs397516321

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516321(C;T)
Make rs397516321(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position77205598
GeneMYO7A
is asnp
is mentioned by
dbSNPrs397516321
dbSNP (classic)rs397516321
ClinGenrs397516321
ebirs397516321
HLIrs397516321
Exacrs397516321
Gnomadrs397516321
Varsomers397516321
LitVarrs397516321
Maprs397516321
PheGenIrs397516321
Biobankrs397516321
1000 genomesrs397516321
hgdprs397516321
ensemblrs397516321
geneviewrs397516321
scholarrs397516321
googlers397516321
pharmgkbrs397516321
gwascentralrs397516321
openSNPrs397516321
23andMers397516321
SNPshotrs397516321
SNPdbers397516321
MSV3drs397516321
GWAS Ctlgrs397516321
Max Magnitude0
ClinVar
Risk rs397516321(T;T)
Alt rs397516321(T;T)
Reference Rs397516321(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76916643C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000036196.2,