rs387906893

Orientation

minus

Stabilized

minus

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

Make rs387906893(C;T)

Make rs387906893(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

122216808

Gene

DIABLO

is a	snp
is	mentioned by
dbSNP	rs387906893
dbSNP (classic)	rs387906893
ClinGen	rs387906893
ebi	rs387906893
HLI	rs387906893
Exac	rs387906893
Gnomad	rs387906893
Varsome	rs387906893
LitVar	rs387906893
Map	rs387906893
PheGenI	rs387906893
Biobank	rs387906893
1000 genomes	rs387906893
hgdp	rs387906893
ensembl	rs387906893
geneview	rs387906893
scholar	rs387906893
google	rs387906893
pharmgkb	rs387906893
gwascentral	rs387906893
openSNP	rs387906893
23andMe	rs387906893
SNPshot	rs387906893
SNPdbe	rs387906893
MSV3d	rs387906893
GWAS Ctlg	rs387906893

Max Magnitude

0

ClinVar
Risk	rs387906893(T;T)
Alt	rs387906893(T;T)
Reference	Rs387906893(C;C)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	DIABLO
CLNDBN	Deafness, autosomal dominant 64
Reversed	1
HGVS	NC_000012.11:g.122701355G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023402.2,