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rs28934580

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28934580(A;A)
Make rs28934580(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2166693
GeneTH
is asnp
is mentioned by
dbSNPrs28934580
ebirs28934580
HLIrs28934580
Exacrs28934580
Varsomers28934580
Maprs28934580
PheGenIrs28934580
hapmaprs28934580
1000 genomesrs28934580
hgdprs28934580
ensemblrs28934580
gopubmedrs28934580
geneviewrs28934580
scholarrs28934580
googlers28934580
pharmgkbrs28934580
gwascentralrs28934580
openSNPrs28934580
23andMers28934580
23andMe allrs28934580
SNP Nexus

SNPshotrs28934580
SNPdbers28934580
MSV3drs28934580
GWAS Ctlgrs28934580
Max Magnitude0
OMIM191290
DescSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
Variant0004
Relatedalso
Neighborrs28934581
Distance302


ClinVar
Risk rs28934580(A;A)
Alt rs28934580(A;A)
Reference rs28934580(G;G)
Significance Pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2187923C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013121.16,