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rs201328768

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201328768(A;A)
Make rs201328768(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position54020319
GenePCDH15
is asnp
is mentioned by
dbSNPrs201328768
dbSNP (classic)rs201328768
ClinGenrs201328768
ebirs201328768
HLIrs201328768
Exacrs201328768
Gnomadrs201328768
Varsomers201328768
LitVarrs201328768
Maprs201328768
PheGenIrs201328768
Biobankrs201328768
1000 genomesrs201328768
hgdprs201328768
ensemblrs201328768
geneviewrs201328768
scholarrs201328768
googlers201328768
pharmgkbrs201328768
gwascentralrs201328768
openSNPrs201328768
23andMers201328768
SNPshotrs201328768
SNPdbers201328768
MSV3drs201328768
GWAS Ctlgrs201328768
Max Magnitude0
ClinVar
Risk rs201328768(A;A) rs201328768(T;T)
Alt rs201328768(A;A) rs201328768(T;T)
Reference Rs201328768(G;G)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 0
HGVS NC_000010.10:g.55780079G>T
CLNSRC
CLNACC RCV000410835.1,