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rs387906416

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCTTCTA;TCTTCTA) 0 common in clinvar
Make rs387906416(CTAGAAG;CTAGAAG)
Make rs387906416(CTAGAAG;TCTTCTA)
ReferenceGRCh38 38.1/141
Chromosome1
Position225404486
GeneLBR
is asnp
is mentioned by
dbSNPrs387906416
ebirs387906416
HLIrs387906416
Exacrs387906416
Varsomers387906416
Maprs387906416
PheGenIrs387906416
hapmaprs387906416
1000 genomesrs387906416
hgdprs387906416
ensemblrs387906416
gopubmedrs387906416
geneviewrs387906416
scholarrs387906416
googlers387906416
pharmgkbrs387906416
gwascentralrs387906416
openSNPrs387906416
23andMers387906416
23andMe allrs387906416
SNP Nexus

SNPshotrs387906416
SNPdbers387906416
MSV3drs387906416
GWAS Ctlgrs387906416
Max Magnitude0
ClinVar
Risk rs387906416(CTAGAAG;CTAGAAG)
Alt rs387906416(CTAGAAG;CTAGAAG)
Reference rs387906416(TCTTCTA;TCTTCTA)
Significance Pathogenic
Disease Greenberg dysplasia Pelger-Huët anomaly
Variation info
Gene LBR
CLNDBN Greenberg dysplasia Pelger-Huët anomaly
Reversed 1
HGVS NC_000001.10:g.225592188_225592194delTAGAAGAinsCTTCTAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000010137.3, RCV000087262.3,