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rs61214927

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61214927(A;A)
Make rs61214927(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position156134853
GeneLMNA
is asnp
is mentioned by
dbSNPrs61214927
dbSNP (classic)rs61214927
ClinGenrs61214927
ebirs61214927
HLIrs61214927
Exacrs61214927
Gnomadrs61214927
Varsomers61214927
LitVarrs61214927
Maprs61214927
PheGenIrs61214927
Biobankrs61214927
1000 genomesrs61214927
hgdprs61214927
ensemblrs61214927
geneviewrs61214927
scholarrs61214927
googlers61214927
pharmgkbrs61214927
gwascentralrs61214927
openSNPrs61214927
23andMers61214927
SNPshotrs61214927
SNPdbers61214927
MSV3drs61214927
GWAS Ctlgrs61214927
Max Magnitude0
OMIM150330
Desc
Variant0042
Relatedalso


ClinVar
Risk rs61214927(A;A)
Alt rs61214927(A;A)
Reference Rs61214927(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.156104644G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015615.26, RCV000057443.1,