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rs727503725

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503725(A;A)
Make rs727503725(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position216000490
GeneUSH2A
is asnp
is mentioned by
dbSNPrs727503725
dbSNP (classic)rs727503725
ClinGenrs727503725
ebirs727503725
HLIrs727503725
Exacrs727503725
Gnomadrs727503725
Varsomers727503725
LitVarrs727503725
Maprs727503725
PheGenIrs727503725
Biobankrs727503725
1000 genomesrs727503725
hgdprs727503725
ensemblrs727503725
geneviewrs727503725
scholarrs727503725
googlers727503725
pharmgkbrs727503725
gwascentralrs727503725
openSNPrs727503725
23andMers727503725
SNPshotrs727503725
SNPdbers727503725
MSV3drs727503725
GWAS Ctlgrs727503725
Max Magnitude0
ClinVar
Risk rs727503725(A;A)
Alt rs727503725(A;A)
Reference Rs727503725(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216173832C>T
CLNSRC
CLNACC RCV000152604.2,