rs121908145

Orientation

plus

Stabilized

plus

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

Make rs121908145(G;T)

Make rs121908145(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

54999196

Gene

BSND

is a	snp
is	mentioned by
dbSNP	rs121908145
dbSNP (classic)	rs121908145
ClinGen	rs121908145
ebi	rs121908145
HLI	rs121908145
Exac	rs121908145
Gnomad	rs121908145
Varsome	rs121908145
LitVar	rs121908145
Map	rs121908145
PheGenI	rs121908145
Biobank	rs121908145
1000 genomes	rs121908145
hgdp	rs121908145
ensembl	rs121908145
geneview	rs121908145
scholar	rs121908145
google	rs121908145
pharmgkb	rs121908145
gwascentral	rs121908145
openSNP	rs121908145
23andMe	rs121908145
SNPshot	rs121908145
SNPdbe	rs121908145
MSV3d	rs121908145
GWAS Ctlg	rs121908145

GMAF

0.0004591

Max Magnitude

0

OMIM	606412
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121908145(A;A) rs121908145(T;T)
Alt	rs121908145(A;A) rs121908145(T;T)
Reference	Rs121908145(G;G)
Significance	Pathogenic
Disease	Sensorineural deafness with mild renal dysfunction
Variation	info
Gene	BSND
CLNDBN	Sensorineural deafness with mild renal dysfunction
Reversed	0
HGVS	NC_000001.10:g.55464869G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004639.3,