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

rs121913159

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913159(C;G)
Make rs121913159(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position7267559
GeneINSR
is asnp
is mentioned by
dbSNPrs121913159
dbSNP (classic)rs121913159
ClinGenrs121913159
ebirs121913159
HLIrs121913159
Exacrs121913159
Gnomadrs121913159
Varsomers121913159
LitVarrs121913159
Maprs121913159
PheGenIrs121913159
Biobankrs121913159
1000 genomesrs121913159
hgdprs121913159
ensemblrs121913159
geneviewrs121913159
scholarrs121913159
googlers121913159
pharmgkbrs121913159
gwascentralrs121913159
openSNPrs121913159
23andMers121913159
SNPshotrs121913159
SNPdbers121913159
MSV3drs121913159
GWAS Ctlgrs121913159
Max Magnitude0
OMIM147670
Desc
Variant0033
Relatedalso
ClinVar
Risk rs121913159(G;G)
Alt rs121913159(G;G)
Reference Rs121913159(C;C)
Significance Pathogenic
Disease Leprechaunism syndrome
Variation info
Gene INSR
CLNDBN Leprechaunism syndrome
Reversed 1
HGVS NC_000019.9:g.7267570G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015826.29,