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rs28937312

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28937312(C;C)
Make rs28937312(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position106035268
GeneSERPINA7
is asnp
is mentioned by
dbSNPrs28937312
ebirs28937312
HLIrs28937312
Exacrs28937312
Varsomers28937312
Maprs28937312
PheGenIrs28937312
hapmaprs28937312
1000 genomesrs28937312
hgdprs28937312
ensemblrs28937312
gopubmedrs28937312
geneviewrs28937312
scholarrs28937312
googlers28937312
pharmgkbrs28937312
gwascentralrs28937312
openSNPrs28937312
23andMers28937312
23andMe allrs28937312
SNP Nexus

SNPshotrs28937312
SNPdbers28937312
MSV3drs28937312
GWAS Ctlgrs28937312
Max Magnitude0
OMIM314200
DescTHYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE
Variant0001
Relatedalso
Neighborrs1804495
Distance898
Neighborrs2234036
Distance109


ClinVar
Risk rs28937312(C;C)
Alt rs28937312(C;C)
Reference rs28937312(T;T)
Significance Pathogenic
Disease Thyroxine-binding globulin deficiency
Variation info
Gene SERPINA7
CLNDBN Thyroxine-binding globulin deficiency, complete
Reversed 1
HGVS NC_000023.10:g.105279259A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010437.2,