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rs121912430

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912430(A;A)
Make rs121912430(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position102419637
GeneIGF1, LOC105369942
is asnp
is mentioned by
dbSNPrs121912430
dbSNP (classic)rs121912430
ClinGenrs121912430
ebirs121912430
HLIrs121912430
Exacrs121912430
Gnomadrs121912430
Varsomers121912430
LitVarrs121912430
Maprs121912430
PheGenIrs121912430
Biobankrs121912430
1000 genomesrs121912430
hgdprs121912430
ensemblrs121912430
geneviewrs121912430
scholarrs121912430
googlers121912430
pharmgkbrs121912430
gwascentralrs121912430
openSNPrs121912430
23andMers121912430
SNPshotrs121912430
SNPdbers121912430
MSV3drs121912430
GWAS Ctlgrs121912430
Max Magnitude0
OMIM147440
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912430(A;A)
Alt rs121912430(A;A)
Reference Rs121912430(G;G)
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.102813415C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015912.27,