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rs121913160

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913160(A;G)
Make rs121913160(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position7170648
GeneINSR
is asnp
is mentioned by
dbSNPrs121913160
ebirs121913160
HLIrs121913160
Exacrs121913160
Varsomers121913160
Maprs121913160
PheGenIrs121913160
hapmaprs121913160
1000 genomesrs121913160
hgdprs121913160
ensemblrs121913160
gopubmedrs121913160
geneviewrs121913160
scholarrs121913160
googlers121913160
pharmgkbrs121913160
gwascentralrs121913160
openSNPrs121913160
23andMers121913160
23andMe allrs121913160
SNP Nexus

SNPshotrs121913160
SNPdbers121913160
MSV3drs121913160
GWAS Ctlgrs121913160
Max Magnitude0
OMIM147670
Desc
Variant0036
Relatedalso
ClinVar
Risk rs121913160(G;G)
Alt rs121913160(G;G)
Reference rs121913160(A;A)
Significance Pathogenic
Disease Leprechaunism syndrome
Variation info
Gene INSR
CLNDBN Leprechaunism syndrome
Reversed 1
HGVS NC_000019.9:g.7170659T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015829.28,