rs928302

plus

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

Make rs928302(C;T)

Make rs928302(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

42389975

Gene

TMPRSS3

is a	snp
is	mentioned by
dbSNP	rs928302
dbSNP (classic)	rs928302
ClinGen	rs928302
ebi	rs928302
HLI	rs928302
Exac	rs928302
Gnomad	rs928302
Varsome	rs928302
LitVar	rs928302
Map	rs928302
PheGenI	rs928302
Biobank	rs928302
1000 genomes	rs928302
hgdp	rs928302
ensembl	rs928302
geneview	rs928302
scholar	rs928302
google	rs928302
pharmgkb	rs928302
gwascentral	rs928302
openSNP	rs928302
23andMe	rs928302
SNPshot	rs928302
SNPdbe	rs928302
MSV3d	rs928302
GWAS Ctlg	rs928302

GMAF

0.1175

Max Magnitude

0

?

(C;C) (C;T) (T;T)

28

ClinVar
Risk	rs928302(T;T)
Alt	rs928302(T;T)
Reference	Rs928302(C;C)
Significance	Probable-non-pathogenic
Disease	not specified Nonsyndromic Hearing Loss
Variation	info
Gene	TMPRSS3
CLNDBN	not specified Nonsyndromic Hearing Loss, Recessive
Reversed	0
HGVS	NC_000021.8:g.43810084C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000039342.3, RCV000295968.1,

[PMID 18817904 ] Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies.

[PMID 11137999] Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.