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rs587777171

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777171(C;C)
Make rs587777171(C;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position225404452
GeneLBR
is asnp
is mentioned by
dbSNPrs587777171
ebirs587777171
HLIrs587777171
Exacrs587777171
Varsomers587777171
Maprs587777171
PheGenIrs587777171
hapmaprs587777171
1000 genomesrs587777171
hgdprs587777171
ensemblrs587777171
gopubmedrs587777171
geneviewrs587777171
scholarrs587777171
googlers587777171
pharmgkbrs587777171
gwascentralrs587777171
openSNPrs587777171
23andMers587777171
23andMe allrs587777171
SNP Nexus

SNPshotrs587777171
SNPdbers587777171
MSV3drs587777171
GWAS Ctlgrs587777171
Max Magnitude0
ClinVar
Risk rs587777171(C,T;C,T)
Alt rs587777171(C,T;C,T)
Reference rs587777171(A;A)
Significance Pathogenic
Disease Greenberg dysplasia
Variation info
Gene LBR
CLNDBN Greenberg dysplasia
Reversed 1
HGVS NC_000001.10:g.225592154T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000087263.3,