rs137853000

Orientation

minus

Stabilized

minus

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

Make rs137853000(G;T)

Make rs137853000(T;T)

Reference

GRCh38 38.1/142

Chromosome

21

Position

42383168

Gene

TMPRSS3

is a	snp
is	mentioned by
dbSNP	rs137853000
dbSNP (classic)	rs137853000
ClinGen	rs137853000
ebi	rs137853000
HLI	rs137853000
Exac	rs137853000
Gnomad	rs137853000
Varsome	rs137853000
LitVar	rs137853000
Map	rs137853000
PheGenI	rs137853000
Biobank	rs137853000
1000 genomes	rs137853000
hgdp	rs137853000
ensembl	rs137853000
geneview	rs137853000
scholar	rs137853000
google	rs137853000
pharmgkb	rs137853000
gwascentral	rs137853000
openSNP	rs137853000
23andMe	rs137853000
SNPshot	rs137853000
SNPdbe	rs137853000
MSV3d	rs137853000
GWAS Ctlg	rs137853000

GMAF

0.0004591

Max Magnitude

0

OMIM	605511
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137853000(A;A) rs137853000(T;T)
Alt	rs137853000(A;A) rs137853000(T;T)
Reference	Rs137853000(G;G)
Significance	Pathogenic
Disease	Deafness Nonsyndromic hearing loss and deafness
Variation	info
Gene	TMPRSS3
CLNDBN	Deafness, autosomal recessive 8 Nonsyndromic hearing loss and deafness
Reversed	1
HGVS	NC_000021.8:g.43803277C>A; NC_000021.8:g.43803277C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005234.3, RCV000039364.2,