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rs28935477

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28935477(C;T)
Make rs28935477(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position49251441
GeneFOXP3
is asnp
is mentioned by
dbSNPrs28935477
ebirs28935477
HLIrs28935477
Exacrs28935477
Varsomers28935477
Maprs28935477
PheGenIrs28935477
hapmaprs28935477
1000 genomesrs28935477
hgdprs28935477
ensemblrs28935477
gopubmedrs28935477
geneviewrs28935477
scholarrs28935477
googlers28935477
pharmgkbrs28935477
gwascentralrs28935477
openSNPrs28935477
23andMers28935477
23andMe allrs28935477
SNP Nexus

SNPshotrs28935477
SNPdbers28935477
MSV3drs28935477
GWAS Ctlgrs28935477
Max Magnitude0
OMIM300292
DescIMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
Variant0001
Relatedalso


ClinVar
Risk rs28935477(T;T)
Alt rs28935477(T;T)
Reference rs28935477(C;C)
Significance Pathogenic
Disease Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Variation info
Gene FOXP3
CLNDBN Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Reversed 1
HGVS NC_000023.10:g.49107902G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012160.2,