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rs727505343

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727505343(-;-)
Make rs727505343(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position216070273
GeneUSH2A
is asnp
is mentioned by
dbSNPrs727505343
ebirs727505343
HLIrs727505343
Exacrs727505343
Varsomers727505343
Maprs727505343
PheGenIrs727505343
hapmaprs727505343
1000 genomesrs727505343
hgdprs727505343
ensemblrs727505343
gopubmedrs727505343
geneviewrs727505343
scholarrs727505343
googlers727505343
pharmgkbrs727505343
gwascentralrs727505343
openSNPrs727505343
23andMers727505343
23andMe allrs727505343
SNP Nexus

SNPshotrs727505343
SNPdbers727505343
MSV3drs727505343
GWAS Ctlgrs727505343
Max Magnitude0
ClinVar
Risk rs727505343(;)
Alt rs727505343(;)
Reference rs727505343(T;T)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216243615delA
CLNSRC
CLNACC RCV000156895.2,