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

rs28934581

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28934581(A;C)
Make rs28934581(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position2166995
GeneTH
is asnp
is mentioned by
dbSNPrs28934581
ebirs28934581
HLIrs28934581
Exacrs28934581
Varsomers28934581
Maprs28934581
PheGenIrs28934581
hapmaprs28934581
1000 genomesrs28934581
hgdprs28934581
ensemblrs28934581
gopubmedrs28934581
geneviewrs28934581
scholarrs28934581
googlers28934581
pharmgkbrs28934581
gwascentralrs28934581
openSNPrs28934581
23andMers28934581
23andMe allrs28934581
SNP Nexus

SNPshotrs28934581
SNPdbers28934581
MSV3drs28934581
GWAS Ctlgrs28934581
Max Magnitude0
OMIM191290
DescSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
Variant0006
Relatedalso
Neighborrs28934580
Distance302


ClinVar
Risk rs28934581(C;C)
Alt rs28934581(C;C)
Reference rs28934581(A;A)
Significance Pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2188225T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013122.25,