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rs587779350

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779350(C;T)
Make rs587779350(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position102419619
GeneIGF1, LOC105369942
is asnp
is mentioned by
dbSNPrs587779350
dbSNP (classic)rs587779350
ClinGenrs587779350
ebirs587779350
HLIrs587779350
Exacrs587779350
Gnomadrs587779350
Varsomers587779350
LitVarrs587779350
Maprs587779350
PheGenIrs587779350
Biobankrs587779350
1000 genomesrs587779350
hgdprs587779350
ensemblrs587779350
geneviewrs587779350
scholarrs587779350
googlers587779350
pharmgkbrs587779350
gwascentralrs587779350
openSNPrs587779350
23andMers587779350
SNPshotrs587779350
SNPdbers587779350
MSV3drs587779350
GWAS Ctlgrs587779350
Max Magnitude0
ClinVar
Risk rs587779350(T;T)
Alt rs587779350(T;T)
Reference Rs587779350(C;C)
Significance Pathogenic
Disease Insulin-like growth factor I deficiency
Variation info
Gene IGF1
CLNDBN Insulin-like growth factor I deficiency
Reversed 1
HGVS NC_000012.11:g.102813397G>A
CLNSRC
CLNACC RCV000115041.1,