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rs387906538

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906538(C;T)
Make rs387906538(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position7132230
GeneINSR
is asnp
is mentioned by
dbSNPrs387906538
ebirs387906538
HLIrs387906538
Exacrs387906538
Varsomers387906538
Maprs387906538
PheGenIrs387906538
hapmaprs387906538
1000 genomesrs387906538
hgdprs387906538
ensemblrs387906538
gopubmedrs387906538
geneviewrs387906538
scholarrs387906538
googlers387906538
pharmgkbrs387906538
gwascentralrs387906538
openSNPrs387906538
23andMers387906538
23andMe allrs387906538
SNP Nexus

SNPshotrs387906538
SNPdbers387906538
MSV3drs387906538
GWAS Ctlgrs387906538
Max Magnitude0
ClinVar
Risk rs387906538(G,T;G,T)
Alt rs387906538(G,T;G,T)
Reference rs387906538(C;C)
Significance Pathogenic
Disease Leprechaunism syndrome
Variation info
Gene INSR
CLNDBN Leprechaunism syndrome
Reversed 1
HGVS NC_000019.9:g.7132241G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015800.29,