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rs727503715

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727503715(-;-)
Make rs727503715(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position215674537
GeneUSH2A
is asnp
is mentioned by
dbSNPrs727503715
dbSNP (classic)rs727503715
ClinGenrs727503715
ebirs727503715
HLIrs727503715
Exacrs727503715
Gnomadrs727503715
Varsomers727503715
LitVarrs727503715
Maprs727503715
PheGenIrs727503715
Biobankrs727503715
1000 genomesrs727503715
hgdprs727503715
ensemblrs727503715
geneviewrs727503715
scholarrs727503715
googlers727503715
pharmgkbrs727503715
gwascentralrs727503715
openSNPrs727503715
23andMers727503715
SNPshotrs727503715
SNPdbers727503715
MSV3drs727503715
GWAS Ctlgrs727503715
Max Magnitude0
ClinVar
Risk rs727503715(-;-)
Alt rs727503715(-;-)
Reference Rs727503715(A;A)
Significance Pathogenic
Disease Usher syndrome not provided
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A not provided
Reversed 1
HGVS NC_000001.10:g.215847879delT
CLNSRC
CLNACC RCV000152565.1, RCV000493634.1,