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rs797045111

From SNPedia

Orientationminus
Make rs797045111(-;-)
Make rs797045111(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position2169679
GeneTH
is asnp
is mentioned by
dbSNPrs797045111
ebirs797045111
HLIrs797045111
Exacrs797045111
Varsomers797045111
Maprs797045111
PheGenIrs797045111
hapmaprs797045111
1000 genomesrs797045111
hgdprs797045111
ensemblrs797045111
gopubmedrs797045111
geneviewrs797045111
scholarrs797045111
googlers797045111
pharmgkbrs797045111
gwascentralrs797045111
openSNPrs797045111
23andMers797045111
23andMe allrs797045111
SNP Nexus

SNPshotrs797045111
SNPdbers797045111
MSV3drs797045111
GWAS Ctlgrs797045111
Max Magnitude
ClinVar
Risk rs797045111(;)
Alt rs797045111(;)
Reference rs797045111(G;G)
Significance Pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2190909delC
CLNSRC
CLNACC RCV000190632.1,