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rs104894544

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894544(A;T)
Make rs104894544(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position81511913
GeneACTG1
is asnp
is mentioned by
dbSNPrs104894544
ebirs104894544
HLIrs104894544
Exacrs104894544
Varsomers104894544
Maprs104894544
PheGenIrs104894544
hapmaprs104894544
1000 genomesrs104894544
hgdprs104894544
ensemblrs104894544
gopubmedrs104894544
geneviewrs104894544
scholarrs104894544
googlers104894544
pharmgkbrs104894544
gwascentralrs104894544
openSNPrs104894544
23andMers104894544
23andMe allrs104894544
SNP Nexus

SNPshotrs104894544
SNPdbers104894544
MSV3drs104894544
GWAS Ctlgrs104894544
Max Magnitude0
OMIM102560
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894544(G,T;G,T)
Alt rs104894544(G,T;G,T)
Reference rs104894544(A;A)
Significance Pathogenic
Disease Deafness
Variation info
Gene ACTG1
CLNDBN Deafness, autosomal dominant 20
Reversed 1
HGVS NC_000017.10:g.79478939T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019981.28,