rs2309428

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in complete genomics
(C;C)	0	common in clinvar

Make rs2309428(A;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

69228107

Gene

TJP2

is a	snp
is	mentioned by
dbSNP	rs2309428
dbSNP (classic)	rs2309428
ClinGen	rs2309428
ebi	rs2309428
HLI	rs2309428
Exac	rs2309428
Gnomad	rs2309428
Varsome	rs2309428
LitVar	rs2309428
Map	rs2309428
PheGenI	rs2309428
Biobank	rs2309428
1000 genomes	rs2309428
hgdp	rs2309428
ensembl	rs2309428
geneview	rs2309428
scholar	rs2309428
google	rs2309428
pharmgkb	rs2309428
gwascentral	rs2309428
openSNP	rs2309428
23andMe	rs2309428
SNPshot	rs2309428
SNPdbe	rs2309428
MSV3d	rs2309428
GWAS Ctlg	rs2309428

GMAF

0.1938

Max Magnitude

0

?	(A;A) (A;C) (C;C)	28

[PMID 20403199] High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.

ClinVar
Risk	Rs2309428(A;A)
Alt	Rs2309428(A;A)
Reference	Rs2309428(C;C)
Significance	Non-pathogenic
Disease	not specified Nonsyndromic Hearing Loss
Variation	info
Gene	TJP2
CLNDBN	not specified Nonsyndromic Hearing Loss, Dominant
Reversed	0
HGVS	NC_000009.11:g.71843023C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000037067.3, RCV000347338.1,