rs267606630

Orientation

minus

Stabilized

minus

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

Make rs267606630(C;C)

Make rs267606630(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

81511912

Gene	ACTG1, FSCN2

is a	snp
is	mentioned by
dbSNP	rs267606630
dbSNP (classic)	rs267606630
ClinGen	rs267606630
ebi	rs267606630
HLI	rs267606630
Exac	rs267606630
Gnomad	rs267606630
Varsome	rs267606630
LitVar	rs267606630
Map	rs267606630
PheGenI	rs267606630
Biobank	rs267606630
1000 genomes	rs267606630
hgdp	rs267606630
ensembl	rs267606630
geneview	rs267606630
scholar	rs267606630
google	rs267606630
pharmgkb	rs267606630
gwascentral	rs267606630
openSNP	rs267606630
23andMe	rs267606630
SNPshot	rs267606630
SNPdbe	rs267606630
MSV3d	rs267606630
GWAS Ctlg	rs267606630

Max Magnitude

0

ClinVar
Risk	rs267606630(A;A) rs267606630(C;C)
Alt	rs267606630(A;A) rs267606630(C;C)
Reference	Rs267606630(G;G)
Significance	Pathogenic
Disease	Deafness not provided
Variation	info
Gene	ACTG1
CLNDBN	Deafness, autosomal dominant 20 not provided
Reversed	1
HGVS	NC_000017.10:g.79478938C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000019986.28, RCV000059722.1,

[PMID 19477959] In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.