Have questions? Visit https://www.reddit.com/r/SNPedia

rs121913145

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913145(A;G)
Make rs121913145(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position7184583
GeneINSR
is asnp
is mentioned by
dbSNPrs121913145
ebirs121913145
HLIrs121913145
Exacrs121913145
Varsomers121913145
Maprs121913145
PheGenIrs121913145
hapmaprs121913145
1000 genomesrs121913145
hgdprs121913145
ensemblrs121913145
gopubmedrs121913145
geneviewrs121913145
scholarrs121913145
googlers121913145
pharmgkbrs121913145
gwascentralrs121913145
openSNPrs121913145
23andMers121913145
23andMe allrs121913145
SNP Nexus

SNPshotrs121913145
SNPdbers121913145
MSV3drs121913145
GWAS Ctlgrs121913145
Max Magnitude0
OMIM147670
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121913145(G;G)
Alt rs121913145(G;G)
Reference rs121913145(A;A)
Significance Pathogenic
Disease Leprechaunism syndrome
Variation info
Gene INSR
CLNDBN Leprechaunism syndrome
Reversed 1
HGVS NC_000019.9:g.7184594T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015808.24,