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rs57830985

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs57830985(A;A)
Make rs57830985(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position156138534
GeneLMNA
is asnp
is mentioned by
dbSNPrs57830985
dbSNP (classic)rs57830985
ClinGenrs57830985
ebirs57830985
HLIrs57830985
Exacrs57830985
Gnomadrs57830985
Varsomers57830985
LitVarrs57830985
Maprs57830985
PheGenIrs57830985
Biobankrs57830985
1000 genomesrs57830985
hgdprs57830985
ensemblrs57830985
geneviewrs57830985
scholarrs57830985
googlers57830985
pharmgkbrs57830985
gwascentralrs57830985
openSNPrs57830985
23andMers57830985
SNPshotrs57830985
SNPdbers57830985
MSV3drs57830985
GWAS Ctlgrs57830985
GMAF0.0004591
Max Magnitude0
OMIM150330
Desc
Variant0016
Relatedalso


ClinVar
Risk rs57830985(A;A)
Alt rs57830985(A;A)
Reference Rs57830985(G;G)
Significance Pathogenic
Disease Familial partial lipodystrophy 2 not provided
Variation info
Gene LMNA
CLNDBN Familial partial lipodystrophy 2 not provided
Reversed 0
HGVS NC_000001.10:g.156108325G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015585.25, RCV000057353.1,