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rs72554658

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72554658(C;T)
Make rs72554658(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position106033600
GeneSERPINA7
is asnp
is mentioned by
dbSNPrs72554658
ebirs72554658
HLIrs72554658
Exacrs72554658
Varsomers72554658
Maprs72554658
PheGenIrs72554658
hapmaprs72554658
1000 genomesrs72554658
hgdprs72554658
ensemblrs72554658
gopubmedrs72554658
geneviewrs72554658
scholarrs72554658
googlers72554658
pharmgkbrs72554658
gwascentralrs72554658
openSNPrs72554658
23andMers72554658
23andMe allrs72554658
SNP Nexus

SNPshotrs72554658
SNPdbers72554658
MSV3drs72554658
GWAS Ctlgrs72554658
Max Magnitude0
OMIM314200
Desc
Variant0012
Relatedalso
ClinVar
Risk rs72554658(T;T)
Alt rs72554658(T;T)
Reference rs72554658(C;C)
Significance Other
Disease Thyroxine-binding globulin deficiency TBG-PDJ
Variation info
Gene SERPINA7
CLNDBN Thyroxine-binding globulin deficiency, partial, Japanese type TBG-PDJ
Reversed 1
HGVS NC_000023.10:g.105277591G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010462.4, RCV000010463.1,