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rs1057517041

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517041(A;T)
Make rs1057517041(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position177993049
GenePROP1
is asnp
is mentioned by
dbSNPrs1057517041
dbSNP (old)rs1057517041
ClinGenrs1057517041
ebirs1057517041
HLIrs1057517041
Exacrs1057517041
Gnomadrs1057517041
Varsomers1057517041
Maprs1057517041
PheGenIrs1057517041
Biobankrs1057517041
1000 genomesrs1057517041
hgdprs1057517041
ensemblrs1057517041
gopubmedrs1057517041
geneviewrs1057517041
scholarrs1057517041
googlers1057517041
pharmgkbrs1057517041
gwascentralrs1057517041
openSNPrs1057517041
23andMers1057517041
23andMe allrs1057517041
SNPshotrs1057517041
SNPdbers1057517041
MSV3drs1057517041
GWAS Ctlgrs1057517041
Max Magnitude0
ClinVar
Risk rs1057517041(T;T)
Alt rs1057517041(T;T)
Reference Rs1057517041(A;A)
Significance Probable-Pathogenic
Disease Pituitary hormone deficiency
Variation info
Gene PROP1
CLNDBN Pituitary hormone deficiency, combined 2
Reversed 1
HGVS NC_000005.9:g.177420050T>A
CLNSRC
CLNACC RCV000411573.1,