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rs1804495

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 0.1
(T;T) 0.3
ReferenceGRCh38 38.1/141
ChromosomeX
Position106034370
GeneSERPINA7
is asnp
is mentioned by
dbSNPrs1804495
ebirs1804495
HLIrs1804495
Exacrs1804495
Varsomers1804495
Maprs1804495
PheGenIrs1804495
hapmaprs1804495
1000 genomesrs1804495
hgdprs1804495
ensemblrs1804495
gopubmedrs1804495
geneviewrs1804495
scholarrs1804495
googlers1804495
pharmgkbrs1804495
gwascentralrs1804495
openSNPrs1804495
23andMers1804495
23andMe allrs1804495
SNP Nexus

SNPshotrs1804495
SNPdbers1804495
MSV3drs1804495
GWAS Ctlgrs1804495
GMAF0.1378
Max Magnitude0.3
? (G;G) (G;T) (T;T) 28

No known significance

OMIM314200
DescTHYROXINE-BINDING GLOBULIN, VARIANT P
Variant0003
Relatedalso
Neighborrs28937312
Distance898


ClinVar
Risk rs1804495(T;T)
Alt rs1804495(T;T)
Reference rs1804495(G;G)
Significance Other
Disease Thyroxine-binding globulin
Variation info
Gene SERPINA7
CLNDBN Thyroxine-binding globulin, variant P
Reversed 1
HGVS NC_000023.10:g.105278361C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010442.2,



GET Evidence
SERPINA7-L303F
aa_change Leu303Phe
aa_change_short L303F
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.119393
summary