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rs387906539

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906539(C;C)
Make rs387906539(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position7184592
GeneINSR
is asnp
is mentioned by
dbSNPrs387906539
ebirs387906539
HLIrs387906539
Exacrs387906539
Varsomers387906539
Maprs387906539
PheGenIrs387906539
hapmaprs387906539
1000 genomesrs387906539
hgdprs387906539
ensemblrs387906539
gopubmedrs387906539
geneviewrs387906539
scholarrs387906539
googlers387906539
pharmgkbrs387906539
gwascentralrs387906539
openSNPrs387906539
23andMers387906539
23andMe allrs387906539
SNP Nexus

SNPshotrs387906539
SNPdbers387906539
MSV3drs387906539
GWAS Ctlgrs387906539
Max Magnitude0
ClinVar
Risk rs387906539(C;C)
Alt rs387906539(C;C)
Reference rs387906539(T;T)
Significance Pathogenic
Disease Leprechaunism syndrome
Variation info
Gene
CLNDBN Leprechaunism syndrome
Reversed 1
HGVS NC_000019.9:g.7184603A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015804.2,