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rs28933689

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28933689(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position106036712
GeneSERPINA7
is asnp
is mentioned by
dbSNPrs28933689
dbSNP (classic)rs28933689
ClinGenrs28933689
ebirs28933689
HLIrs28933689
Exacrs28933689
Gnomadrs28933689
Varsomers28933689
LitVarrs28933689
Maprs28933689
PheGenIrs28933689
Biobankrs28933689
1000 genomesrs28933689
hgdprs28933689
ensemblrs28933689
geneviewrs28933689
scholarrs28933689
googlers28933689
pharmgkbrs28933689
gwascentralrs28933689
openSNPrs28933689
23andMers28933689
SNPshotrs28933689
SNPdbers28933689
MSV3drs28933689
GWAS Ctlgrs28933689
Max Magnitude0
OMIM314200
DescTHYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, GARY TYPE
Variant0008
Relatedalso


ClinVar
Risk Rs28933689(A;A)
Alt Rs28933689(A;A)
Reference Rs28933689(T;T)
Significance Pathogenic
Disease Thyroxine-binding globulin deficiency
Variation info
Gene SERPINA7
CLNDBN Thyroxine-binding globulin deficiency, partial
Reversed 1
HGVS NC_000023.10:g.105280703A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010454.4,