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rs727503736

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503736(A;A)
Make rs727503736(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position216246853
GeneUSH2A
is asnp
is mentioned by
dbSNPrs727503736
dbSNP (classic)rs727503736
ClinGenrs727503736
ebirs727503736
HLIrs727503736
Exacrs727503736
Gnomadrs727503736
Varsomers727503736
LitVarrs727503736
Maprs727503736
PheGenIrs727503736
Biobankrs727503736
1000 genomesrs727503736
hgdprs727503736
ensemblrs727503736
geneviewrs727503736
scholarrs727503736
googlers727503736
pharmgkbrs727503736
gwascentralrs727503736
openSNPrs727503736
23andMers727503736
SNPshotrs727503736
SNPdbers727503736
MSV3drs727503736
GWAS Ctlgrs727503736
Max Magnitude0
ClinVar
Risk rs727503736(A;A)
Alt rs727503736(A;A)
Reference Rs727503736(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 1
HGVS NC_000001.10:g.216420195G>T
CLNSRC
CLNACC RCV000152630.1,