rs56264519

Orientation

plus

Stabilized

plus

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

Make rs56264519(C;T)

Make rs56264519(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

42375787

Gene

TMPRSS3

is a	snp
is	mentioned by
dbSNP	rs56264519
dbSNP (classic)	rs56264519
ClinGen	rs56264519
ebi	rs56264519
HLI	rs56264519
Exac	rs56264519
Gnomad	rs56264519
Varsome	rs56264519
LitVar	rs56264519
Map	rs56264519
PheGenI	rs56264519
Biobank	rs56264519
1000 genomes	rs56264519
hgdp	rs56264519
ensembl	rs56264519
geneview	rs56264519
scholar	rs56264519
google	rs56264519
pharmgkb	rs56264519
gwascentral	rs56264519
openSNP	rs56264519
23andMe	rs56264519
SNPshot	rs56264519
SNPdbe	rs56264519
MSV3d	rs56264519
GWAS Ctlg	rs56264519

Max Magnitude

0

ClinVar
Risk	rs56264519(T;T)
Alt	rs56264519(T;T)
Reference	Rs56264519(C;C)
Significance	Probable-Pathogenic
Disease	Deafness Nonsyndromic hearing loss and deafness not provided
Variation	info
Gene	TMPRSS3
CLNDBN	Deafness, autosomal recessive 8 Nonsyndromic hearing loss and deafness not provided
Reversed	0
HGVS	NC_000021.8:g.43795896C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000039339.5, RCV000211742.1, RCV000428693.1,