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rs137853004

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853004(C;G)
Make rs137853004(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position54090041
GenePCDH15
is asnp
is mentioned by
dbSNPrs137853004
ebirs137853004
HLIrs137853004
Exacrs137853004
Varsomers137853004
Maprs137853004
PheGenIrs137853004
hapmaprs137853004
1000 genomesrs137853004
hgdprs137853004
ensemblrs137853004
gopubmedrs137853004
geneviewrs137853004
scholarrs137853004
googlers137853004
pharmgkbrs137853004
gwascentralrs137853004
openSNPrs137853004
23andMers137853004
23andMe allrs137853004
SNP Nexus

SNPshotrs137853004
SNPdbers137853004
MSV3drs137853004
GWAS Ctlgrs137853004
Max Magnitude0
OMIM605514
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137853004(G;G)
Alt rs137853004(G;G)
Reference rs137853004(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene PCDH15
CLNDBN Usher syndrome, type 1F
Reversed 1
HGVS NC_000010.10:g.55849801G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005224.2,