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rs4935502

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs4935502(G;G)
Make rs4935502(G;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position54195684
GenePCDH15
is asnp
is mentioned by
dbSNPrs4935502
ebirs4935502
HLIrs4935502
Exacrs4935502
Varsomers4935502
Maprs4935502
PheGenIrs4935502
hapmaprs4935502
1000 genomesrs4935502
hgdprs4935502
ensemblrs4935502
gopubmedrs4935502
geneviewrs4935502
scholarrs4935502
googlers4935502
pharmgkbrs4935502
gwascentralrs4935502
openSNPrs4935502
23andMers4935502
23andMe allrs4935502
SNP Nexus

SNPshotrs4935502
SNPdbers4935502
MSV3drs4935502
GWAS Ctlgrs4935502
GMAF0.3375
Max Magnitude0
? (G;G) (G;T) (T;T) 28


Venter snp
Source plos
Gene PCDH15
allele G
frequency 0.14
sift TOLERATED
HuRef 1103649941444
Disease Association Defects in PCDH15 are the cause of autosomal recessive deafness type 23 (DFNB23) (MIM:609533).



ClinVar
Risk rs4935502(G;G)
Alt rs4935502(G;G)
Reference rs4935502(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene PCDH15
CLNDBN not specified
Reversed 0
HGVS NC_000010.10:g.55955444T>G
CLNSRC ClinVar
CLNACC RCV000039699.2,



[PMID 16385451OA-icon.png] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.


[PMID 19816713OA-icon.png] A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia.


GET Evidence
PCDH15-D440A
aa_change Asp440Ala
aa_change_short D440A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.131344
summary