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rs121913158

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913158(C;C)
Make rs121913158(C;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position7170704
GeneINSR
is asnp
is mentioned by
dbSNPrs121913158
ebirs121913158
HLIrs121913158
Exacrs121913158
Varsomers121913158
Maprs121913158
PheGenIrs121913158
hapmaprs121913158
1000 genomesrs121913158
hgdprs121913158
ensemblrs121913158
gopubmedrs121913158
geneviewrs121913158
scholarrs121913158
googlers121913158
pharmgkbrs121913158
gwascentralrs121913158
openSNPrs121913158
23andMers121913158
23andMe allrs121913158
SNP Nexus

SNPshotrs121913158
SNPdbers121913158
MSV3drs121913158
GWAS Ctlgrs121913158
Max Magnitude0
OMIM147670
Desc
Variant0032
Relatedalso
ClinVar
Risk rs121913158(C;C)
Alt rs121913158(C;C)
Reference rs121913158(G;G)
Significance Pathogenic
Disease Leprechaunism syndrome
Variation info
Gene INSR
CLNDBN Leprechaunism syndrome
Reversed 1
HGVS NC_000019.9:g.7170715C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015825.28,