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rs193922688

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs193922688(-;-)
Make rs193922688(-;AG)
ReferenceGRCh38 38.1/141
Chromosome5
Position177994146
GenePROP1
is asnp
is mentioned by
dbSNPrs193922688
ebirs193922688
HLIrs193922688
Exacrs193922688
Varsomers193922688
Maprs193922688
PheGenIrs193922688
hapmaprs193922688
1000 genomesrs193922688
hgdprs193922688
ensemblrs193922688
gopubmedrs193922688
geneviewrs193922688
scholarrs193922688
googlers193922688
pharmgkbrs193922688
gwascentralrs193922688
openSNPrs193922688
23andMers193922688
23andMe allrs193922688
SNP Nexus

SNPshotrs193922688
SNPdbers193922688
MSV3drs193922688
GWAS Ctlgrs193922688
Max Magnitude0
ClinVar
Risk rs193922688(;)
Alt rs193922688(;)
Reference rs193922688(AG;AG)
Significance Pathogenic
Disease Pituitary hormone deficiency Pituitary hormone deficiency
Variation info
Gene PROP1
CLNDBN Pituitary hormone deficiency, combined 2 Pituitary hormone deficiency, combined
Reversed 1
HGVS NC_000005.9:g.177421147_177421148delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000008566.9, RCV000030379.1,


[PMID 106758] [Repeated intrauterine fetal death in a woman with genotype Rh-D-/-D-].


[PMID 9745452] The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.


[PMID 12414875] Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.


[PMID 15519252] Pituitary hormone deficiencies due to transcription factor gene alterations.


[PMID 16984240] PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.