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rs58672172

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs58672172(C;T)
Make rs58672172(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156136251
GeneLMNA
is asnp
is mentioned by
dbSNPrs58672172
dbSNP (classic)rs58672172
ClinGenrs58672172
ebirs58672172
HLIrs58672172
Exacrs58672172
Gnomadrs58672172
Varsomers58672172
LitVarrs58672172
Maprs58672172
PheGenIrs58672172
Biobankrs58672172
1000 genomesrs58672172
hgdprs58672172
ensemblrs58672172
geneviewrs58672172
scholarrs58672172
googlers58672172
pharmgkbrs58672172
gwascentralrs58672172
openSNPrs58672172
23andMers58672172
SNPshotrs58672172
SNPdbers58672172
MSV3drs58672172
GWAS Ctlgrs58672172
Max Magnitude0
OMIM150330
Desc
Variant0043
Relatedalso


ClinVar
Risk rs58672172(T;T)
Alt rs58672172(T;T)
Reference Rs58672172(C;C)
Significance Pathogenic
Disease Familial partial lipodystrophy 2 not provided not specified
Variation info
Gene LMNA
CLNDBN Familial partial lipodystrophy 2 not provided not specified
Reversed 0
HGVS NC_000001.10:g.156106042C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015616.26, RCV000057255.3, RCV000212505.1,