Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516992

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516992(-;A)
Make rs1057516992(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position54369260
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057516992
dbSNP (classic)rs1057516992
ClinGenrs1057516992
ebirs1057516992
HLIrs1057516992
Exacrs1057516992
Gnomadrs1057516992
Varsomers1057516992
LitVarrs1057516992
Maprs1057516992
PheGenIrs1057516992
Biobankrs1057516992
1000 genomesrs1057516992
hgdprs1057516992
ensemblrs1057516992
geneviewrs1057516992
scholarrs1057516992
googlers1057516992
pharmgkbrs1057516992
gwascentralrs1057516992
openSNPrs1057516992
23andMers1057516992
23andMe allrs1057516992
SNPshotrs1057516992
SNPdbers1057516992
MSV3drs1057516992
GWAS Ctlgrs1057516992
Max Magnitude0
ClinVar
Risk rs1057516992(A;A)
Alt rs1057516992(A;A)
Reference Rs1057516992(-;-)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.56129021dupT
CLNSRC
CLNACC RCV000411746.1,