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rs575112817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs575112817(A;G)
Make rs575112817(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position57198751
GeneHESX1
is asnp
is mentioned by
dbSNPrs575112817
ebirs575112817
HLIrs575112817
Exacrs575112817
Varsomers575112817
Maprs575112817
PheGenIrs575112817
hapmaprs575112817
1000 genomesrs575112817
hgdprs575112817
ensemblrs575112817
gopubmedrs575112817
geneviewrs575112817
scholarrs575112817
googlers575112817
pharmgkbrs575112817
gwascentralrs575112817
openSNPrs575112817
23andMers575112817
23andMe allrs575112817
SNP Nexus

SNPshotrs575112817
SNPdbers575112817
MSV3drs575112817
GWAS Ctlgrs575112817
Max Magnitude0
ClinVar
Risk rs575112817(G,T;G,T)
Alt rs575112817(G,T;G,T)
Reference rs575112817(A;A)
Significance Pathogenic
Disease Pituitary hormone deficiency
Variation info
Gene HESX1
CLNDBN Pituitary hormone deficiency, combined 5
Reversed 0
HGVS NC_000003.11:g.57232779A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008137.3,