rs2135720

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs2135720(A;A)

Make rs2135720(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

53995731

Gene

PCDH15

is a	snp
is	mentioned by
dbSNP	rs2135720
dbSNP (classic)	rs2135720
ClinGen	rs2135720
ebi	rs2135720
HLI	rs2135720
Exac	rs2135720
Gnomad	rs2135720
Varsome	rs2135720
LitVar	rs2135720
Map	rs2135720
PheGenI	rs2135720
Biobank	rs2135720
1000 genomes	rs2135720
hgdp	rs2135720
ensembl	rs2135720
geneview	rs2135720
scholar	rs2135720
google	rs2135720
pharmgkb	rs2135720
gwascentral	rs2135720
openSNP	rs2135720
23andMe	rs2135720
SNPshot	rs2135720
SNPdbe	rs2135720
MSV3d	rs2135720
GWAS Ctlg	rs2135720

GMAF

0.2957

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs2135720(A;A)
Alt	rs2135720(A;A)
Reference	Rs2135720(G;G)
Significance	Probable-non-pathogenic
Disease	not specified Nonsyndromic Hearing Loss Retinitis pigmentosa-deafness syndrome
Variation	info
Gene	PCDH15
CLNDBN	not specified Nonsyndromic Hearing Loss, Recessive Retinitis pigmentosa-deafness syndrome
Reversed	1
HGVS	NC_000010.10:g.55755491C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000039715.3, RCV000311639.1, RCV000350263.1,

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