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rs1939992

From SNPedia

Orientationplus
Stabilizedplus
Make rs1939992(C;C)
Make rs1939992(C;T)
Make rs1939992(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position126939809
GeneKIRREL3, KIRREL3-AS2
is asnp
is mentioned by
dbSNPrs1939992
ebirs1939992
HLIrs1939992
Exacrs1939992
Varsomers1939992
Maprs1939992
PheGenIrs1939992
hapmaprs1939992
1000 genomesrs1939992
hgdprs1939992
ensemblrs1939992
gopubmedrs1939992
geneviewrs1939992
scholarrs1939992
googlers1939992
pharmgkbrs1939992
gwascentralrs1939992
openSNPrs1939992
23andMers1939992
23andMe allrs1939992
SNP Nexus

SNPshotrs1939992
SNPdbers1939992
MSV3drs1939992
GWAS Ctlgrs1939992
GMAF0.1919
Max Magnitude
? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 18464913OA-icon.png]
Trait Protein quantitative trait loci
Title A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)
Risk Allele
P-val 9.9999999999999995E-7
Odds Ratio NR NR

[PMID 18464913OA-icon.png] total Insulin-like growth factor (IGF-1, IGF1) protein levels

[PMID 17273967OA-icon.png] Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.


GET Evidence
rs1939992
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.809524
summary