rs104894544

Orientation

minus

Stabilized

minus

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

Make rs104894544(A;T)

Make rs104894544(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

81511913

Gene	ACTG1, FSCN2

is a	snp
is	mentioned by
dbSNP	rs104894544
dbSNP (classic)	rs104894544
ClinGen	rs104894544
ebi	rs104894544
HLI	rs104894544
Exac	rs104894544
Gnomad	rs104894544
Varsome	rs104894544
LitVar	rs104894544
Map	rs104894544
PheGenI	rs104894544
Biobank	rs104894544
1000 genomes	rs104894544
hgdp	rs104894544
ensembl	rs104894544
geneview	rs104894544
scholar	rs104894544
google	rs104894544
pharmgkb	rs104894544
gwascentral	rs104894544
openSNP	rs104894544
23andMe	rs104894544
SNPshot	rs104894544
SNPdbe	rs104894544
MSV3d	rs104894544
GWAS Ctlg	rs104894544

Max Magnitude

0

OMIM	102560
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894544(G;G) rs104894544(T;T)
Alt	rs104894544(G;G) rs104894544(T;T)
Reference	Rs104894544(A;A)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	ACTG1
CLNDBN	Deafness, autosomal dominant 20
Reversed	1
HGVS	NC_000017.10:g.79478939T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019981.28,