rs28999112

Orientation

minus

Stabilized

minus

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

Make rs28999112(C;T)

Make rs28999112(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

81511078

Gene	ACTG1, FSCN2

is a	snp
is	mentioned by
dbSNP	rs28999112
dbSNP (classic)	rs28999112
ClinGen	rs28999112
ebi	rs28999112
HLI	rs28999112
Exac	rs28999112
Gnomad	rs28999112
Varsome	rs28999112
LitVar	rs28999112
Map	rs28999112
PheGenI	rs28999112
Biobank	rs28999112
1000 genomes	rs28999112
hgdp	rs28999112
ensembl	rs28999112
geneview	rs28999112
scholar	rs28999112
google	rs28999112
pharmgkb	rs28999112
gwascentral	rs28999112
openSNP	rs28999112
23andMe	rs28999112
SNPshot	rs28999112
SNPdbe	rs28999112
MSV3d	rs28999112
GWAS Ctlg	rs28999112

Max Magnitude

0

deafness

OMIM	102560
Desc	DEAFNESS, AUTOSOMAL DOMINANT 20
Variant	0005
Related	also

ClinVar
Risk	rs28999112(T;T)
Alt	rs28999112(T;T)
Reference	Rs28999112(C;C)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	ACTG1
CLNDBN	Deafness, autosomal dominant 20
Reversed	1
HGVS	NC_000017.10:g.79478104G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019984.28,