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rs797044513

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGCCCGGG;TGCCCGGG) 0 common in clinvar
Make rs797044513(A;A)
Make rs797044513(A;TGCCCGGG)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position77189404
GeneMYO7A
is asnp
is mentioned by
dbSNPrs797044513
dbSNP (old)rs797044513
ClinGenrs797044513
ebirs797044513
HLIrs797044513
Exacrs797044513
Varsomers797044513
Maprs797044513
PheGenIrs797044513
Biobankrs797044513
1000 genomesrs797044513
hgdprs797044513
ensemblrs797044513
gopubmedrs797044513
geneviewrs797044513
scholarrs797044513
googlers797044513
pharmgkbrs797044513
gwascentralrs797044513
openSNPrs797044513
23andMers797044513
23andMe allrs797044513
SNP Nexus

SNPshotrs797044513
SNPdbers797044513
MSV3drs797044513
GWAS Ctlgrs797044513
Max Magnitude0
ClinVar
Risk rs797044513(A;A)
Alt rs797044513(A;A)
Reference Rs797044513(TGCCCGGG;TGCCCGGG)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene MYO7A
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000011.9:g.76900449_76900456delinsA
CLNSRC
CLNACC RCV000155845.1,