rs118203988

Orientation

plus

Stabilized

plus

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

Make rs118203988(C;T)

Make rs118203988(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

178453570

Gene

DFNB59

is a	snp
is	mentioned by
dbSNP	rs118203988
dbSNP (classic)	rs118203988
ClinGen	rs118203988
ebi	rs118203988
HLI	rs118203988
Exac	rs118203988
Gnomad	rs118203988
Varsome	rs118203988
LitVar	rs118203988
Map	rs118203988
PheGenI	rs118203988
Biobank	rs118203988
1000 genomes	rs118203988
hgdp	rs118203988
ensembl	rs118203988
geneview	rs118203988
scholar	rs118203988
google	rs118203988
pharmgkb	rs118203988
gwascentral	rs118203988
openSNP	rs118203988
23andMe	rs118203988
SNPshot	rs118203988
SNPdbe	rs118203988
MSV3d	rs118203988
GWAS Ctlg	rs118203988

Max Magnitude

0

OMIM	610219
Desc
Variant	0002
Related	also

ClinVar
Risk	rs118203988(T;T)
Alt	rs118203988(T;T)
Reference	Rs118203988(C;C)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	DFNB59
CLNDBN	Deafness, autosomal recessive 59
Reversed	0
HGVS	NC_000002.11:g.179318297C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001361.2,