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

rs1056396947

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position53809339
GenePCDH15
is asnp
is mentioned by
dbSNPrs1056396947
dbSNP (classic)rs1056396947
ClinGenrs1056396947
ebirs1056396947
HLIrs1056396947
Exacrs1056396947
Gnomadrs1056396947
Varsomers1056396947
LitVarrs1056396947
Maprs1056396947
PheGenIrs1056396947
Biobankrs1056396947
1000 genomesrs1056396947
hgdprs1056396947
ensemblrs1056396947
geneviewrs1056396947
scholarrs1056396947
googlers1056396947
pharmgkbrs1056396947
gwascentralrs1056396947
openSNPrs1056396947
23andMers1056396947
SNPshotrs1056396947
SNPdbers1056396947
MSV3drs1056396947
GWAS Ctlgrs1056396947
Max Magnitude0
ClinVar
Risk rs1056396947(A;A)
Alt rs1056396947(A;A)
Reference Rs1056396947(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene
CLNDBN Deafness, autosomal recessive 23
Reversed 0
HGVS NC_000010.10:g.55569099G>A
CLNSRC
CLNACC RCV000454314.1,