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rs786204540

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204540(C;T)
Make rs786204540(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position2165284
GeneTH
is asnp
is mentioned by
dbSNPrs786204540
ClinGenrs786204540
ebirs786204540
HLIrs786204540
Exacrs786204540
Varsomers786204540
Maprs786204540
PheGenIrs786204540
hapmaprs786204540
1000 genomesrs786204540
hgdprs786204540
ensemblrs786204540
gopubmedrs786204540
geneviewrs786204540
scholarrs786204540
googlers786204540
pharmgkbrs786204540
gwascentralrs786204540
openSNPrs786204540
23andMers786204540
23andMe allrs786204540
SNP Nexus

SNPshotrs786204540
SNPdbers786204540
MSV3drs786204540
GWAS Ctlgrs786204540
Max Magnitude0
ClinVar
Risk rs786204540(T;T)
Alt rs786204540(T;T)
Reference Rs786204540(C;C)
Significance Probable-Pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2186514G>A
CLNSRC
CLNACC RCV000169247.1,