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rs1050086

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1050086(A;A)
Make rs1050086(A;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position106036488
GeneSERPINA7
is asnp
is mentioned by
dbSNPrs1050086
ebirs1050086
HLIrs1050086
Exacrs1050086
Varsomers1050086
Maprs1050086
PheGenIrs1050086
hapmaprs1050086
1000 genomesrs1050086
hgdprs1050086
ensemblrs1050086
gopubmedrs1050086
geneviewrs1050086
scholarrs1050086
googlers1050086
pharmgkbrs1050086
gwascentralrs1050086
openSNPrs1050086
23andMers1050086
23andMe allrs1050086
SNP Nexus

SNPshotrs1050086
SNPdbers1050086
MSV3drs1050086
GWAS Ctlgrs1050086
GMAF0.026
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM314200
DescTHYROXINE-BINDING GLOBULIN, SLOW
Variant0004
Relatedalso
ClinVar
Risk rs1050086(A;A)
Alt rs1050086(A;A)
Reference rs1050086(G;G)
Significance Other
Disease Thyroxine-binding globulin
Variation info
Gene SERPINA7
CLNDBN Thyroxine-binding globulin, slow
Reversed 1
HGVS NC_000023.10:g.105280479C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010444.4,


GET Evidence
SERPINA7-D191N
aa_change Asp191Asn
aa_change_short D191N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0381235
summary