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rs104893742

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893742(A;A)
Make rs104893742(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position57198405
GeneHESX1
is asnp
is mentioned by
dbSNPrs104893742
ebirs104893742
HLIrs104893742
Exacrs104893742
Varsomers104893742
Maprs104893742
PheGenIrs104893742
hapmaprs104893742
1000 genomesrs104893742
hgdprs104893742
ensemblrs104893742
gopubmedrs104893742
geneviewrs104893742
scholarrs104893742
googlers104893742
pharmgkbrs104893742
gwascentralrs104893742
openSNPrs104893742
23andMers104893742
23andMe allrs104893742
SNP Nexus

SNPshotrs104893742
SNPdbers104893742
MSV3drs104893742
GWAS Ctlgrs104893742
Max Magnitude0
OMIM601802
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104893742(A;A)
Alt rs104893742(A;A)
Reference rs104893742(G;G)
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.57232433C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008138.2,