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rs200180113

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200180113(A;A)
Make rs200180113(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position225411411
GeneLBR
is asnp
is mentioned by
dbSNPrs200180113
dbSNP (classic)rs200180113
ClinGenrs200180113
ebirs200180113
HLIrs200180113
Exacrs200180113
Gnomadrs200180113
Varsomers200180113
LitVarrs200180113
Maprs200180113
PheGenIrs200180113
Biobankrs200180113
1000 genomesrs200180113
hgdprs200180113
ensemblrs200180113
geneviewrs200180113
scholarrs200180113
googlers200180113
pharmgkbrs200180113
gwascentralrs200180113
openSNPrs200180113
23andMers200180113
SNPshotrs200180113
SNPdbers200180113
MSV3drs200180113
GWAS Ctlgrs200180113
Max Magnitude0
ClinVar
Risk rs200180113(A;A)
Alt rs200180113(A;A)
Reference Rs200180113(G;G)
Significance Pathogenic
Disease Reynolds syndrome
Variation info
Gene LBR
CLNDBN Reynolds syndrome
Reversed 0
HGVS NC_000001.10:g.225599113G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010141.6,