rs104894545

Orientation

minus

Stabilized

minus

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

Make rs104894545(C;G)

Make rs104894545(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

81510824

Gene

ACTG1

is a	snp
is	mentioned by
dbSNP	rs104894545
dbSNP (classic)	rs104894545
ClinGen	rs104894545
ebi	rs104894545
HLI	rs104894545
Exac	rs104894545
Gnomad	rs104894545
Varsome	rs104894545
LitVar	rs104894545
Map	rs104894545
PheGenI	rs104894545
Biobank	rs104894545
1000 genomes	rs104894545
hgdp	rs104894545
ensembl	rs104894545
geneview	rs104894545
scholar	rs104894545
google	rs104894545
pharmgkb	rs104894545
gwascentral	rs104894545
openSNP	rs104894545
23andMe	rs104894545
SNPshot	rs104894545
SNPdbe	rs104894545
MSV3d	rs104894545
GWAS Ctlg	rs104894545

Max Magnitude

0

OMIM	102560
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894545(G;G)
Alt	rs104894545(G;G)
Reference	Rs104894545(C;C)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	ACTG1
CLNDBN	Deafness, autosomal dominant 20
Reversed	1
HGVS	NC_000017.10:g.79477850G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019982.27,