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rs11575937

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs11575937(A;A)
Make rs11575937(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position156136985
GeneLMNA
is asnp
is mentioned by
dbSNPrs11575937
ebirs11575937
HLIrs11575937
Exacrs11575937
Varsomers11575937
Maprs11575937
PheGenIrs11575937
hapmaprs11575937
1000 genomesrs11575937
hgdprs11575937
ensemblrs11575937
gopubmedrs11575937
geneviewrs11575937
scholarrs11575937
googlers11575937
pharmgkbrs11575937
gwascentralrs11575937
openSNPrs11575937
23andMers11575937
23andMe allrs11575937
SNP Nexus

SNPshotrs11575937
SNPdbers11575937
MSV3drs11575937
GWAS Ctlgrs11575937
Max Magnitude0
OMIM150330
Desc
Variant0010
Relatedalso
OMIM150330
Desc
Variant0012
Relatedalso
ClinVar
Risk rs11575937(A,T;A,T)
Alt rs11575937(A,T;A,T)
Reference rs11575937(G;G)
Significance Pathogenic
Disease Familial partial lipodystrophy 2 Primary dilated cardiomyopathy not provided Partial lipodystrophy Emery-Dreifuss muscular dystrophy 3
Variation info
Gene LMNA
CLNDBN Familial partial lipodystrophy 2 Primary dilated cardiomyopathy not provided Partial lipodystrophy, Dunnigan Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Reversed 0
HGVS NC_000001.10:g.156106776G>A; NC_000001.10:g.156106776G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015575.26, RCV000041318.3, RCV000057299.1, RCV000148600.1, RCV000190399.2, RCV000015580.26, RCV000057300.1,