Have questions? Visit https://www.reddit.com/r/SNPedia

rs56699480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs56699480(C;T)
Make rs56699480(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156137017
GeneLMNA
is asnp
is mentioned by
dbSNPrs56699480
ebirs56699480
HLIrs56699480
Exacrs56699480
Varsomers56699480
Maprs56699480
PheGenIrs56699480
hapmaprs56699480
1000 genomesrs56699480
hgdprs56699480
ensemblrs56699480
gopubmedrs56699480
geneviewrs56699480
scholarrs56699480
googlers56699480
pharmgkbrs56699480
gwascentralrs56699480
openSNPrs56699480
23andMers56699480
23andMe allrs56699480
SNP Nexus

SNPshotrs56699480
SNPdbers56699480
MSV3drs56699480
GWAS Ctlgrs56699480
Max Magnitude0
OMIM150330
Desc
Variant0038
Relatedalso


ClinVar
Risk rs56699480(T;T)
Alt rs56699480(T;T)
Reference rs56699480(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy not provided
Variation info
Gene LMNA
CLNDBN Limb-girdle muscular dystrophy, type 1B not provided
Reversed 0
HGVS NC_000001.10:g.156106808C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015609.22, RCV000057304.1,