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rs387906540

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906540(C;T)
Make rs387906540(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position7174592
GeneINSR
is asnp
is mentioned by
dbSNPrs387906540
ClinGenrs387906540
ebirs387906540
HLIrs387906540
Exacrs387906540
Varsomers387906540
Maprs387906540
PheGenIrs387906540
hapmaprs387906540
1000 genomesrs387906540
hgdprs387906540
ensemblrs387906540
gopubmedrs387906540
geneviewrs387906540
scholarrs387906540
googlers387906540
pharmgkbrs387906540
gwascentralrs387906540
openSNPrs387906540
23andMers387906540
23andMe allrs387906540
SNP Nexus

SNPshotrs387906540
SNPdbers387906540
MSV3drs387906540
GWAS Ctlgrs387906540
Max Magnitude0
ClinVar
Risk rs387906540(T;T)
Alt rs387906540(T;T)
Reference Rs387906540(C;C)
Significance Pathogenic
Disease Leprechaunism syndrome
Variation info
Gene
CLNDBN Leprechaunism syndrome
Reversed 1
HGVS NC_000019.9:g.7174603G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015816.2,