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rs104894562

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894562(C;T)
Make rs104894562(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position28529157
GeneFOXN1
is asnp
is mentioned by
dbSNPrs104894562
ebirs104894562
HLIrs104894562
Exacrs104894562
Varsomers104894562
Maprs104894562
PheGenIrs104894562
hapmaprs104894562
1000 genomesrs104894562
hgdprs104894562
ensemblrs104894562
gopubmedrs104894562
geneviewrs104894562
scholarrs104894562
googlers104894562
pharmgkbrs104894562
gwascentralrs104894562
openSNPrs104894562
23andMers104894562
23andMe allrs104894562
SNP Nexus

SNPshotrs104894562
SNPdbers104894562
MSV3drs104894562
GWAS Ctlgrs104894562
Max Magnitude0
OMIM600838
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894562(T;T)
Alt rs104894562(T;T)
Reference rs104894562(C;C)
Significance Pathogenic
Disease T-cell immunodeficiency
Variation info
Gene FOXN1
CLNDBN T-cell immunodeficiency, congenital alopecia and nail dystrophy
Reversed 0
HGVS NC_000017.10:g.26856175C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009300.3,