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rs72554659

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72554659(C;T)
Make rs72554659(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position106033697
GeneSERPINA7
is asnp
is mentioned by
dbSNPrs72554659
ebirs72554659
HLIrs72554659
Exacrs72554659
Varsomers72554659
Maprs72554659
PheGenIrs72554659
hapmaprs72554659
1000 genomesrs72554659
hgdprs72554659
ensemblrs72554659
gopubmedrs72554659
geneviewrs72554659
scholarrs72554659
googlers72554659
pharmgkbrs72554659
gwascentralrs72554659
openSNPrs72554659
23andMers72554659
23andMe allrs72554659
SNP Nexus

SNPshotrs72554659
SNPdbers72554659
MSV3drs72554659
GWAS Ctlgrs72554659
Max Magnitude0
OMIM314200
Desc
Variant0005
Relatedalso
ClinVar
Risk rs72554659(T;T)
Alt rs72554659(T;T)
Reference rs72554659(C;C)
Significance Pathogenic
Disease Thyroxine-binding globulin deficiency
Variation info
Gene SERPINA7
CLNDBN Thyroxine-binding globulin deficiency, partial
Reversed 1
HGVS NC_000023.10:g.105277688G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010446.5,