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rs201657446

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201657446(C;C)
Make rs201657446(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position215889057
GeneUSH2A
is asnp
is mentioned by
dbSNPrs201657446
dbSNP (classic)rs201657446
ClinGenrs201657446
ebirs201657446
HLIrs201657446
Exacrs201657446
Gnomadrs201657446
Varsomers201657446
LitVarrs201657446
Maprs201657446
PheGenIrs201657446
Biobankrs201657446
1000 genomesrs201657446
hgdprs201657446
ensemblrs201657446
geneviewrs201657446
scholarrs201657446
googlers201657446
pharmgkbrs201657446
gwascentralrs201657446
openSNPrs201657446
23andMers201657446
SNPshotrs201657446
SNPdbers201657446
MSV3drs201657446
GWAS Ctlgrs201657446
Max Magnitude0
ClinVar
Risk rs201657446(C;C)
Alt rs201657446(C;C)
Reference Rs201657446(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene USH2A
CLNDBN Usher syndrome, type 2A
Reversed 0
HGVS NC_000001.10:g.216062399G>C
CLNSRC
CLNACC RCV000178475.1,