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rs387906537

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906537(A;G)
Make rs387906537(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position7170642
GeneINSR
is asnp
is mentioned by
dbSNPrs387906537
ebirs387906537
HLIrs387906537
Exacrs387906537
Varsomers387906537
Maprs387906537
PheGenIrs387906537
hapmaprs387906537
1000 genomesrs387906537
hgdprs387906537
ensemblrs387906537
gopubmedrs387906537
geneviewrs387906537
scholarrs387906537
googlers387906537
pharmgkbrs387906537
gwascentralrs387906537
openSNPrs387906537
23andMers387906537
23andMe allrs387906537
SNP Nexus

SNPshotrs387906537
SNPdbers387906537
MSV3drs387906537
GWAS Ctlgrs387906537
Max Magnitude0
ClinVar
Risk rs387906537(G;G)
Alt rs387906537(G;G)
Reference rs387906537(A;A)
Significance Pathogenic
Disease Leprechaunism syndrome
Variation info
Gene
CLNDBN Leprechaunism syndrome
Reversed 1
HGVS NC_000019.9:g.7170653T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015794.2,