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rs1057517251

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517251(C;G)
Make rs1057517251(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position54153147
GenePCDH15
is asnp
is mentioned by
dbSNPrs1057517251
dbSNP (old)rs1057517251
ClinGenrs1057517251
ebirs1057517251
HLIrs1057517251
Exacrs1057517251
Gnomadrs1057517251
Varsomers1057517251
Maprs1057517251
PheGenIrs1057517251
Biobankrs1057517251
1000 genomesrs1057517251
hgdprs1057517251
ensemblrs1057517251
gopubmedrs1057517251
geneviewrs1057517251
scholarrs1057517251
googlers1057517251
pharmgkbrs1057517251
gwascentralrs1057517251
openSNPrs1057517251
23andMers1057517251
23andMe allrs1057517251
SNPshotrs1057517251
SNPdbers1057517251
MSV3drs1057517251
GWAS Ctlgrs1057517251
Max Magnitude0
ClinVar
Risk rs1057517251(G;G)
Alt rs1057517251(G;G)
Reference Rs1057517251(C;C)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55912907G>C
CLNSRC
CLNACC RCV000410287.1,