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rs28928902

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28928902(C;T)
Make rs28928902(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156136951
GeneLMNA
is asnp
is mentioned by
dbSNPrs28928902
ebirs28928902
HLIrs28928902
Exacrs28928902
Varsomers28928902
Maprs28928902
PheGenIrs28928902
hapmaprs28928902
1000 genomesrs28928902
hgdprs28928902
ensemblrs28928902
gopubmedrs28928902
geneviewrs28928902
scholarrs28928902
googlers28928902
pharmgkbrs28928902
gwascentralrs28928902
openSNPrs28928902
23andMers28928902
23andMe allrs28928902
SNP Nexus

SNPshotrs28928902
SNPdbers28928902
MSV3drs28928902
GWAS Ctlgrs28928902
Max Magnitude0
OMIM150330
DescMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
Variant0025
Relatedalso


ClinVar
Risk rs28928902(G,T;G,T)
Alt rs28928902(G,T;G,T)
Reference rs28928902(C;C)
Significance Pathogenic
Disease not provided Mandibuloacral dysplasia with type A lipodystrophy Charcot-Marie-Tooth disease
Variation info
Gene LMNA
CLNDBN not provided Mandibuloacral dysplasia with type A lipodystrophy, atypical Charcot-Marie-Tooth disease
Reversed 0
HGVS NC_000001.10:g.156106742C>G; NC_000001.10:g.156106742C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000057292.1, RCV000015597.26, RCV000057293.1, RCV000192239.1,