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rs121913153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913153(C;C)
Make rs121913153(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position7267659
GeneINSR
is asnp
is mentioned by
dbSNPrs121913153
ebirs121913153
HLIrs121913153
Exacrs121913153
Varsomers121913153
Maprs121913153
PheGenIrs121913153
hapmaprs121913153
1000 genomesrs121913153
hgdprs121913153
ensemblrs121913153
gopubmedrs121913153
geneviewrs121913153
scholarrs121913153
googlers121913153
pharmgkbrs121913153
gwascentralrs121913153
openSNPrs121913153
23andMers121913153
23andMe allrs121913153
SNP Nexus

SNPshotrs121913153
SNPdbers121913153
MSV3drs121913153
GWAS Ctlgrs121913153
Max Magnitude0
OMIM147670
Desc
Variant0025
Relatedalso
ClinVar
Risk rs121913153(C;C)
Alt rs121913153(C;C)
Reference rs121913153(G;G)
Significance Pathogenic
Disease Leprechaunism syndrome
Variation info
Gene INSR
CLNDBN Leprechaunism syndrome
Reversed 1
HGVS NC_000019.9:g.7267670C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015818.28,