rs28999111

Orientation

minus

Stabilized

minus

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

Make rs28999111(C;T)

Make rs28999111(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

81512000

Gene	ACTG1, FSCN2

is a	snp
is	mentioned by
dbSNP	rs28999111
dbSNP (classic)	rs28999111
ClinGen	rs28999111
ebi	rs28999111
HLI	rs28999111
Exac	rs28999111
Gnomad	rs28999111
Varsome	rs28999111
LitVar	rs28999111
Map	rs28999111
PheGenI	rs28999111
Biobank	rs28999111
1000 genomes	rs28999111
hgdp	rs28999111
ensembl	rs28999111
geneview	rs28999111
scholar	rs28999111
google	rs28999111
pharmgkb	rs28999111
gwascentral	rs28999111
openSNP	rs28999111
23andMe	rs28999111
SNPshot	rs28999111
SNPdbe	rs28999111
MSV3d	rs28999111
GWAS Ctlg	rs28999111

Max Magnitude

0

deafness

OMIM	102560
Desc	DEAFNESS, AUTOSOMAL DOMINANT 20
Variant	0001
Related	also

ClinVar
Risk	rs28999111(T;T)
Alt	rs28999111(T;T)
Reference	Rs28999111(C;C)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	FSCN2 ACTG1
CLNDBN	Deafness, autosomal dominant 20
Reversed	1
HGVS	NC_000017.10:g.79479026G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019980.28,