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rs267607632

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607632(A;A)
Make rs267607632(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position156134976
GeneLMNA
is asnp
is mentioned by
dbSNPrs267607632
dbSNP (classic)rs267607632
ClinGenrs267607632
ebirs267607632
HLIrs267607632
Exacrs267607632
Gnomadrs267607632
Varsomers267607632
LitVarrs267607632
Maprs267607632
PheGenIrs267607632
Biobankrs267607632
1000 genomesrs267607632
hgdprs267607632
ensemblrs267607632
geneviewrs267607632
scholarrs267607632
googlers267607632
pharmgkbrs267607632
gwascentralrs267607632
openSNPrs267607632
23andMers267607632
SNPshotrs267607632
SNPdbers267607632
MSV3drs267607632
GWAS Ctlgrs267607632
Max Magnitude0
ClinVar
Risk rs267607632(A;A) rs267607632(C;C)
Alt rs267607632(A;A) rs267607632(C;C)
Reference Rs267607632(G;G)
Significance Pathogenic
Disease not provided Charcot-Marie-Tooth disease Benign scapuloperoneal muscular dystrophy with cardiomyopathy Congenital muscular dystrophy Limb-girdle muscular dystrophy
Variation info
Gene LMNA
CLNDBN not provided Charcot-Marie-Tooth disease, type 2 Benign scapuloperoneal muscular dystrophy with cardiomyopathy Congenital muscular dystrophy, LMNA-related Limb-girdle muscular dystrophy, type 1B
Reversed 0
HGVS NC_000001.10:g.156104767G>A; NC_000001.10:g.156104767G>C
CLNSRC
CLNACC RCV000057465.1, RCV000477527.1, RCV000199480.1,