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rs397516303

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAGGACCTTTG;AAGGACCTTTG) 0 common in clinvar
(GAAGGACCTTT;GAAGGACCTTT) 0 common in clinvar
Make rs397516303(-;-)
Make rs397516303(-;AAGGACCTTTG)
ReferenceGRCh38 38.1/141
Chromosome11
Position77190085
GeneMYO7A
is asnp
is mentioned by
dbSNPrs397516303
ebirs397516303
HLIrs397516303
Exacrs397516303
Varsomers397516303
Maprs397516303
PheGenIrs397516303
hapmaprs397516303
1000 genomesrs397516303
hgdprs397516303
ensemblrs397516303
gopubmedrs397516303
geneviewrs397516303
scholarrs397516303
googlers397516303
pharmgkbrs397516303
gwascentralrs397516303
openSNPrs397516303
23andMers397516303
23andMe allrs397516303
SNP Nexus

SNPshotrs397516303
SNPdbers397516303
MSV3drs397516303
GWAS Ctlgrs397516303
Max Magnitude0
ClinVar
Risk rs397516303(;)
Alt rs397516303(;)
Reference rs397516303(GAAGGACCTTT;GAAGGACCTTT)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76901130_76901140delAAGGACCTTTG
CLNSRC ClinVar
CLNACC RCV000036121.2,