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rs1057516821

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516821(-;GTAG)
Make rs1057516821(GTAG;GTAG)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position53831319
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057516821
dbSNP (old)rs1057516821
ClinGenrs1057516821
ebirs1057516821
HLIrs1057516821
Exacrs1057516821
Gnomadrs1057516821
Varsomers1057516821
Maprs1057516821
PheGenIrs1057516821
Biobankrs1057516821
1000 genomesrs1057516821
hgdprs1057516821
ensemblrs1057516821
gopubmedrs1057516821
geneviewrs1057516821
scholarrs1057516821
googlers1057516821
pharmgkbrs1057516821
gwascentralrs1057516821
openSNPrs1057516821
23andMers1057516821
23andMe allrs1057516821
SNPshotrs1057516821
SNPdbers1057516821
MSV3drs1057516821
GWAS Ctlgrs1057516821
Max Magnitude0
ClinVar
Risk rs1057516821(GTAG;GTAG)
Alt rs1057516821(GTAG;GTAG)
Reference Rs1057516821(-;-)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55591079_55591080insCTAC
CLNSRC
CLNACC RCV000410395.1,