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rs104894546

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894546(C;T)
Make rs104894546(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position81511199
GeneACTG1
is asnp
is mentioned by
dbSNPrs104894546
ebirs104894546
HLIrs104894546
Exacrs104894546
Varsomers104894546
Maprs104894546
PheGenIrs104894546
hapmaprs104894546
1000 genomesrs104894546
hgdprs104894546
ensemblrs104894546
gopubmedrs104894546
geneviewrs104894546
scholarrs104894546
googlers104894546
pharmgkbrs104894546
gwascentralrs104894546
openSNPrs104894546
23andMers104894546
23andMe allrs104894546
SNP Nexus

SNPshotrs104894546
SNPdbers104894546
MSV3drs104894546
GWAS Ctlgrs104894546
Max Magnitude0
OMIM102560
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894546(T;T)
Alt rs104894546(T;T)
Reference rs104894546(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene ACTG1
CLNDBN Deafness, autosomal dominant 20
Reversed 1
HGVS NC_000017.10:g.79478225G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019983.28,