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rs57920071

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs57920071(C;T)
Make rs57920071(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156136984
GeneLMNA
is asnp
is mentioned by
dbSNPrs57920071
dbSNP (classic)rs57920071
ClinGenrs57920071
ebirs57920071
HLIrs57920071
Exacrs57920071
Gnomadrs57920071
Varsomers57920071
LitVarrs57920071
Maprs57920071
PheGenIrs57920071
Biobankrs57920071
1000 genomesrs57920071
hgdprs57920071
ensemblrs57920071
geneviewrs57920071
scholarrs57920071
googlers57920071
pharmgkbrs57920071
gwascentralrs57920071
openSNPrs57920071
23andMers57920071
SNPshotrs57920071
SNPdbers57920071
MSV3drs57920071
GWAS Ctlgrs57920071
Max Magnitude0
OMIM150330
Desc
Variant0011
Relatedalso


ClinVar
Risk rs57920071(T;T)
Alt rs57920071(T;T)
Reference Rs57920071(C;C)
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.156106775C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015579.28, RCV000057298.1,