rs104894546

Orientation

minus

Stabilized

minus

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

Make rs104894546(C;T)

Make rs104894546(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

81511199

Gene	ACTG1, FSCN2

is a	snp
is	mentioned by
dbSNP	rs104894546
dbSNP (classic)	rs104894546
ClinGen	rs104894546
ebi	rs104894546
HLI	rs104894546
Exac	rs104894546
Gnomad	rs104894546
Varsome	rs104894546
LitVar	rs104894546
Map	rs104894546
PheGenI	rs104894546
Biobank	rs104894546
1000 genomes	rs104894546
hgdp	rs104894546
ensembl	rs104894546
geneview	rs104894546
scholar	rs104894546
google	rs104894546
pharmgkb	rs104894546
gwascentral	rs104894546
openSNP	rs104894546
23andMe	rs104894546
SNPshot	rs104894546
SNPdbe	rs104894546
MSV3d	rs104894546
GWAS Ctlg	rs104894546

Max Magnitude

0

OMIM	102560
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894546(T;T)
Alt	rs104894546(T;T)
Reference	Rs104894546(C;C)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	ACTG1
CLNDBN	Deafness, autosomal dominant 20
Reversed	1
HGVS	NC_000017.10:g.79478225G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019983.28,