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

rs28999112

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28999112(C;T)
Make rs28999112(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position81511078
GeneACTG1
is asnp
is mentioned by
dbSNPrs28999112
ebirs28999112
HLIrs28999112
Exacrs28999112
Varsomers28999112
Maprs28999112
PheGenIrs28999112
hapmaprs28999112
1000 genomesrs28999112
hgdprs28999112
ensemblrs28999112
gopubmedrs28999112
geneviewrs28999112
scholarrs28999112
googlers28999112
pharmgkbrs28999112
gwascentralrs28999112
openSNPrs28999112
23andMers28999112
23andMe allrs28999112
SNP Nexus

SNPshotrs28999112
SNPdbers28999112
MSV3drs28999112
GWAS Ctlgrs28999112
Max Magnitude0
deafness
OMIM102560
DescDEAFNESS, AUTOSOMAL DOMINANT 20
Variant0005
Relatedalso


ClinVar
Risk rs28999112(T;T)
Alt rs28999112(T;T)
Reference rs28999112(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene ACTG1
CLNDBN Deafness, autosomal dominant 20
Reversed 1
HGVS NC_000017.10:g.79478104G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019984.28,