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rs2234036

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2234036(A;A)
Make rs2234036(A;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position106035377
GeneSERPINA7
is asnp
is mentioned by
dbSNPrs2234036
dbSNP (classic)rs2234036
ClinGenrs2234036
ebirs2234036
HLIrs2234036
Exacrs2234036
Gnomadrs2234036
Varsomers2234036
LitVarrs2234036
Maprs2234036
PheGenIrs2234036
Biobankrs2234036
1000 genomesrs2234036
hgdprs2234036
ensemblrs2234036
geneviewrs2234036
scholarrs2234036
googlers2234036
pharmgkbrs2234036
gwascentralrs2234036
openSNPrs2234036
23andMers2234036
SNPshotrs2234036
SNPdbers2234036
MSV3drs2234036
GWAS Ctlgrs2234036
GMAF0.004837
Max Magnitude0
? (A;A) (A;G) (G;G) 28


OMIM314200
DescTHYROXINE-BINDING GLOBULIN, VARIANT A
Variant0002
Relatedalso




ClinVar
Risk rs2234036(A;A)
Alt rs2234036(A;A)
Reference Rs2234036(G;G)
Significance Pathogenic
Disease Thyroxine-binding globulin Thyroxine-binding globulin deficiency
Variation info
Gene SERPINA7
CLNDBN Thyroxine-binding globulin, variant A Thyroxine-binding globulin deficiency
Reversed 1
HGVS NC_000023.10:g.105279368C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010439.3, RCV000490381.1,