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rs28936704

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28936704(A;G)
Make rs28936704(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position57198214
GeneHESX1
is asnp
is mentioned by
dbSNPrs28936704
ebirs28936704
HLIrs28936704
Exacrs28936704
Varsomers28936704
Maprs28936704
PheGenIrs28936704
hapmaprs28936704
1000 genomesrs28936704
hgdprs28936704
ensemblrs28936704
gopubmedrs28936704
geneviewrs28936704
scholarrs28936704
googlers28936704
pharmgkbrs28936704
gwascentralrs28936704
openSNPrs28936704
23andMers28936704
23andMe allrs28936704
SNP Nexus

SNPshotrs28936704
SNPdbers28936704
MSV3drs28936704
GWAS Ctlgrs28936704
Max Magnitude0
OMIM601802
DescGROWTH HORMONE DEFICIENCY, HESX1-RELATED
Variant0003
Relatedalso
Neighborrs28936703
Distance32


ClinVar
Risk rs28936704(G;G)
Alt rs28936704(G;G)
Reference rs28936704(A;A)
Significance Pathogenic
Disease Growth hormone deficiency with pituitary anomalies
Variation info
Gene HESX1
CLNDBN Growth hormone deficiency with pituitary anomalies
Reversed 1
HGVS NC_000003.11:g.57232242T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008132.2,