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rs121913141

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913141(C;C)
Make rs121913141(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position7184511
GeneINSR
is asnp
is mentioned by
dbSNPrs121913141
ebirs121913141
HLIrs121913141
Exacrs121913141
Varsomers121913141
Maprs121913141
PheGenIrs121913141
hapmaprs121913141
1000 genomesrs121913141
hgdprs121913141
ensemblrs121913141
gopubmedrs121913141
geneviewrs121913141
scholarrs121913141
googlers121913141
pharmgkbrs121913141
gwascentralrs121913141
openSNPrs121913141
23andMers121913141
23andMe allrs121913141
SNP Nexus

SNPshotrs121913141
SNPdbers121913141
MSV3drs121913141
GWAS Ctlgrs121913141
Max Magnitude0
OMIM147670
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121913141(C;C)
Alt rs121913141(C;C)
Reference rs121913141(T;T)
Significance Pathogenic
Disease Leprechaunism syndrome
Variation info
Gene INSR
CLNDBN Leprechaunism syndrome
Reversed 1
HGVS NC_000019.9:g.7184522A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015804.28,