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rs121913136

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913136(A;G)
Make rs121913136(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position7170561
GeneINSR
is asnp
is mentioned by
dbSNPrs121913136
ebirs121913136
HLIrs121913136
Exacrs121913136
Varsomers121913136
Maprs121913136
PheGenIrs121913136
hapmaprs121913136
1000 genomesrs121913136
hgdprs121913136
ensemblrs121913136
gopubmedrs121913136
geneviewrs121913136
scholarrs121913136
googlers121913136
pharmgkbrs121913136
gwascentralrs121913136
openSNPrs121913136
23andMers121913136
23andMe allrs121913136
SNP Nexus

SNPshotrs121913136
SNPdbers121913136
MSV3drs121913136
GWAS Ctlgrs121913136
Merged fromRs28933083
Max Magnitude0
OMIM147670
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121913136(G;G)
Alt rs121913136(G;G)
Reference rs121913136(A;A)
Significance Pathogenic
Disease Leprechaunism syndrome
Variation info
Gene INSR
CLNDBN Leprechaunism syndrome
Reversed 1
HGVS NC_000019.9:g.7170572T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015794.28,