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rs771351747

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs771351747(C;C)
Make rs771351747(C;T)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position2164327
GeneTH
is asnp
is mentioned by
dbSNPrs771351747
dbSNP (classic)rs771351747
ClinGenrs771351747
ebirs771351747
HLIrs771351747
Exacrs771351747
Gnomadrs771351747
Varsomers771351747
LitVarrs771351747
Maprs771351747
PheGenIrs771351747
Biobankrs771351747
1000 genomesrs771351747
hgdprs771351747
ensemblrs771351747
geneviewrs771351747
scholarrs771351747
googlers771351747
pharmgkbrs771351747
gwascentralrs771351747
openSNPrs771351747
23andMers771351747
SNPshotrs771351747
SNPdbers771351747
MSV3drs771351747
GWAS Ctlgrs771351747
Max Magnitude0
ClinVar
Risk rs771351747(C;C)
Alt rs771351747(C;C)
Reference Rs771351747(T;T)
Significance Probable-Pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 0
HGVS NC_000011.9:g.2185557T>C
CLNSRC Illumina
CLNACC RCV000364341.1,