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rs267606630

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606630(C;C)
Make rs267606630(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position81511912
GeneACTG1
is asnp
is mentioned by
dbSNPrs267606630
ebirs267606630
HLIrs267606630
Exacrs267606630
Varsomers267606630
Maprs267606630
PheGenIrs267606630
hapmaprs267606630
1000 genomesrs267606630
hgdprs267606630
ensemblrs267606630
gopubmedrs267606630
geneviewrs267606630
scholarrs267606630
googlers267606630
pharmgkbrs267606630
gwascentralrs267606630
openSNPrs267606630
23andMers267606630
23andMe allrs267606630
SNP Nexus

SNPshotrs267606630
SNPdbers267606630
MSV3drs267606630
GWAS Ctlgrs267606630
Max Magnitude0
ClinVar
Risk rs267606630(A,C;A,C)
Alt rs267606630(A,C;A,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 (variants)
CLNACC RCV000019986.28, RCV000059722.1,


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