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rs28936416

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28936416(C;C)
Make rs28936416(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position57199842
GeneHESX1
is asnp
is mentioned by
dbSNPrs28936416
ebirs28936416
HLIrs28936416
Exacrs28936416
Varsomers28936416
Maprs28936416
PheGenIrs28936416
hapmaprs28936416
1000 genomesrs28936416
hgdprs28936416
ensemblrs28936416
gopubmedrs28936416
geneviewrs28936416
scholarrs28936416
googlers28936416
pharmgkbrs28936416
gwascentralrs28936416
openSNPrs28936416
23andMers28936416
23andMe allrs28936416
SNP Nexus

SNPshotrs28936416
SNPdbers28936416
MSV3drs28936416
GWAS Ctlgrs28936416
Max Magnitude0
OMIM601802
DescPITUITARY HORMONE DEFICIENCY, COMBINED, HESX1-RELATED
Variant0005
Relatedalso


ClinVar
Risk rs28936416(C;C)
Alt rs28936416(C;C)
Reference rs28936416(T;T)
Significance Pathogenic
Disease Pituitary hormone deficiency
Variation info
Gene HESX1
CLNDBN Pituitary hormone deficiency, combined 5
Reversed 1
HGVS NC_000003.11:g.57233870A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008134.3,