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rs56673169

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs56673169(C;C)
Make rs56673169(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position156137671
GeneLMNA
is asnp
is mentioned by
dbSNPrs56673169
dbSNP (classic)rs56673169
ClinGenrs56673169
ebirs56673169
HLIrs56673169
Exacrs56673169
Gnomadrs56673169
Varsomers56673169
LitVarrs56673169
Maprs56673169
PheGenIrs56673169
Biobankrs56673169
1000 genomesrs56673169
hgdprs56673169
ensemblrs56673169
geneviewrs56673169
scholarrs56673169
googlers56673169
pharmgkbrs56673169
gwascentralrs56673169
openSNPrs56673169
23andMers56673169
SNPshotrs56673169
SNPdbers56673169
MSV3drs56673169
GWAS Ctlgrs56673169
Max Magnitude0
OMIM150330
Desc
Variant0033
Relatedalso


ClinVar
Risk rs56673169(C;C)
Alt rs56673169(C;C)
Reference Rs56673169(G;G)
Significance Pathogenic
Disease Mandibuloacral dysostosis not provided
Variation info
Gene LMNA
CLNDBN Mandibuloacral dysostosis not provided
Reversed 0
HGVS NC_000001.10:g.156107462G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015603.26, RCV000057346.1,