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rs28999111

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28999111(C;T)
Make rs28999111(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position81512000
GeneACTG1, FSCN2
is asnp
is mentioned by
dbSNPrs28999111
ebirs28999111
HLIrs28999111
Exacrs28999111
Varsomers28999111
Maprs28999111
PheGenIrs28999111
hapmaprs28999111
1000 genomesrs28999111
hgdprs28999111
ensemblrs28999111
gopubmedrs28999111
geneviewrs28999111
scholarrs28999111
googlers28999111
pharmgkbrs28999111
gwascentralrs28999111
openSNPrs28999111
23andMers28999111
23andMe allrs28999111
SNP Nexus

SNPshotrs28999111
SNPdbers28999111
MSV3drs28999111
GWAS Ctlgrs28999111
Max Magnitude0
deafness
OMIM102560
DescDEAFNESS, AUTOSOMAL DOMINANT 20
Variant0001
Relatedalso


ClinVar
Risk rs28999111(T;T)
Alt rs28999111(T;T)
Reference rs28999111(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene FSCN2 ACTG1
CLNDBN Deafness, autosomal dominant 20
Reversed 1
HGVS NC_000017.10:g.79479026G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019980.28,