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rs7445271

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs7445271(C;T)
Make rs7445271(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position177995875
GenePROP1
is asnp
is mentioned by
dbSNPrs7445271
ebirs7445271
HLIrs7445271
Exacrs7445271
Varsomers7445271
Maprs7445271
PheGenIrs7445271
hapmaprs7445271
1000 genomesrs7445271
hgdprs7445271
ensemblrs7445271
gopubmedrs7445271
geneviewrs7445271
scholarrs7445271
googlers7445271
pharmgkbrs7445271
gwascentralrs7445271
openSNPrs7445271
23andMers7445271
23andMe allrs7445271
SNP Nexus

SNPshotrs7445271
SNPdbers7445271
MSV3drs7445271
GWAS Ctlgrs7445271
GMAF0.001377
Max Magnitude0
Venter snp
Source plos
Gene PROP1
allele C
frequency
sift TOLERATED
HuRef 1103654304212
Disease Association Defects in PROP1 are a cause of combined pituitary hormone deficiency (CPHD) (MIM:601538, 262600). It is characterized by impaired production of growth hormone (GH) and one or more of the other five anterior pituitary hormones.



GET Evidence
PROP1-N20S
aa_change Asn20Ser
aa_change_short N20S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.999628
summary