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rs398122920

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122920(-;-)
Make rs398122920(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position131277943
GeneIGSF1
is asnp
is mentioned by
dbSNPrs398122920
dbSNP (classic)rs398122920
ClinGenrs398122920
ebirs398122920
HLIrs398122920
Exacrs398122920
Gnomadrs398122920
Varsomers398122920
LitVarrs398122920
Maprs398122920
PheGenIrs398122920
Biobankrs398122920
1000 genomesrs398122920
hgdprs398122920
ensemblrs398122920
geneviewrs398122920
scholarrs398122920
googlers398122920
pharmgkbrs398122920
gwascentralrs398122920
openSNPrs398122920
23andMers398122920
SNPshotrs398122920
SNPdbers398122920
MSV3drs398122920
GWAS Ctlgrs398122920
Max Magnitude0
ClinVar
Risk rs398122920(-;-)
Alt rs398122920(-;-)
Reference Rs398122920(G;G)
Significance Pathogenic
Disease Hypothyroidism
Variation info
Gene IGSF1
CLNDBN Hypothyroidism, central, and testicular enlargement
Reversed 1
HGVS NC_000023.10:g.130411917delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000033078.25,