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rs587776767

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587776767(A;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2165787
GeneTH
is asnp
is mentioned by
dbSNPrs587776767
ebirs587776767
HLIrs587776767
Exacrs587776767
Varsomers587776767
Maprs587776767
PheGenIrs587776767
hapmaprs587776767
1000 genomesrs587776767
hgdprs587776767
ensemblrs587776767
gopubmedrs587776767
geneviewrs587776767
scholarrs587776767
googlers587776767
pharmgkbrs587776767
gwascentralrs587776767
openSNPrs587776767
23andMers587776767
23andMe allrs587776767
SNP Nexus

SNPshotrs587776767
SNPdbers587776767
MSV3drs587776767
GWAS Ctlgrs587776767
Max Magnitude0
ClinVar
Risk rs587776767(A;A)
Alt rs587776767(A;A)
Reference rs587776767(T;T)
Significance Pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2187017A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013124.25,