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rs2135720

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2135720(A;A)
Make rs2135720(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position53995731
GenePCDH15
is asnp
is mentioned by
dbSNPrs2135720
ebirs2135720
HLIrs2135720
Exacrs2135720
Varsomers2135720
Maprs2135720
PheGenIrs2135720
hapmaprs2135720
1000 genomesrs2135720
hgdprs2135720
ensemblrs2135720
gopubmedrs2135720
geneviewrs2135720
scholarrs2135720
googlers2135720
pharmgkbrs2135720
gwascentralrs2135720
openSNPrs2135720
23andMers2135720
23andMe allrs2135720
SNP Nexus

SNPshotrs2135720
SNPdbers2135720
MSV3drs2135720
GWAS Ctlgrs2135720
GMAF0.2957
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene PCDH15
allele T
frequency 0.2
sift TOLERATED
HuRef 1103649940891
Disease Association Defects in PCDH15 are the cause of autosomal recessive deafness type 23 (DFNB23) (MIM:609533).



ClinVar
Risk rs2135720(A;A)
Alt rs2135720(A;A)
Reference rs2135720(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene PCDH15
CLNDBN not specified
Reversed 1
HGVS NC_000010.10:g.55755491C>T
CLNSRC ClinVar
CLNACC RCV000039715.2,



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


GET Evidence
PCDH15-R929Q
aa_change Arg929Gln
aa_change_short R929Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.1875
summary