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rs104894547

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894547(C;C)
Make rs104894547(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position81510709
GeneACTG1
is asnp
is mentioned by
dbSNPrs104894547
ebirs104894547
HLIrs104894547
Exacrs104894547
Varsomers104894547
Maprs104894547
PheGenIrs104894547
hapmaprs104894547
1000 genomesrs104894547
hgdprs104894547
ensemblrs104894547
gopubmedrs104894547
geneviewrs104894547
scholarrs104894547
googlers104894547
pharmgkbrs104894547
gwascentralrs104894547
openSNPrs104894547
23andMers104894547
23andMe allrs104894547
SNP Nexus

SNPshotrs104894547
SNPdbers104894547
MSV3drs104894547
GWAS Ctlgrs104894547
Max Magnitude0
OMIM102560
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894547(C;C)
Alt rs104894547(C;C)
Reference rs104894547(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene ACTG1
CLNDBN Deafness, autosomal dominant 20
Reversed 1
HGVS NC_000017.10:g.79477735A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019985.28,