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rs1057516974

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516974(-;-)
Make rs1057516974(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position53940887
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057516974
dbSNP (old)rs1057516974
ClinGenrs1057516974
ebirs1057516974
HLIrs1057516974
Exacrs1057516974
Gnomadrs1057516974
Varsomers1057516974
LitVarrs1057516974
Maprs1057516974
PheGenIrs1057516974
Biobankrs1057516974
1000 genomesrs1057516974
hgdprs1057516974
ensemblrs1057516974
gopubmedrs1057516974
geneviewrs1057516974
scholarrs1057516974
googlers1057516974
pharmgkbrs1057516974
gwascentralrs1057516974
openSNPrs1057516974
23andMers1057516974
23andMe allrs1057516974
SNPshotrs1057516974
SNPdbers1057516974
MSV3drs1057516974
GWAS Ctlgrs1057516974
Max Magnitude0
ClinVar
Risk rs1057516974(-;-)
Alt rs1057516974(-;-)
Reference Rs1057516974(A;A)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55700647delT
CLNSRC
CLNACC RCV000409990.1,