Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894545

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894545(C;G)
Make rs104894545(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position81510824
GeneACTG1
is asnp
is mentioned by
dbSNPrs104894545
ebirs104894545
HLIrs104894545
Exacrs104894545
Varsomers104894545
Maprs104894545
PheGenIrs104894545
hapmaprs104894545
1000 genomesrs104894545
hgdprs104894545
ensemblrs104894545
gopubmedrs104894545
geneviewrs104894545
scholarrs104894545
googlers104894545
pharmgkbrs104894545
gwascentralrs104894545
openSNPrs104894545
23andMers104894545
23andMe allrs104894545
SNP Nexus

SNPshotrs104894545
SNPdbers104894545
MSV3drs104894545
GWAS Ctlgrs104894545
Max Magnitude0
OMIM102560
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894545(G;G)
Alt rs104894545(G;G)
Reference rs104894545(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene ACTG1
CLNDBN Deafness, autosomal dominant 20
Reversed 1
HGVS NC_000017.10:g.79477850G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019982.27,