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rs1057518971

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518971(G;T)
Make rs1057518971(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position156115048
GeneLMNA
is asnp
is mentioned by
dbSNPrs1057518971
dbSNP (classic)rs1057518971
ClinGenrs1057518971
ebirs1057518971
HLIrs1057518971
Exacrs1057518971
Gnomadrs1057518971
Varsomers1057518971
LitVarrs1057518971
Maprs1057518971
PheGenIrs1057518971
Biobankrs1057518971
1000 genomesrs1057518971
hgdprs1057518971
ensemblrs1057518971
geneviewrs1057518971
scholarrs1057518971
googlers1057518971
pharmgkbrs1057518971
gwascentralrs1057518971
openSNPrs1057518971
23andMers1057518971
23andMe allrs1057518971
SNPshotrs1057518971
SNPdbers1057518971
MSV3drs1057518971
GWAS Ctlgrs1057518971
Max Magnitude0
ClinVar
Risk rs1057518971(T;T)
Alt rs1057518971(T;T)
Reference Rs1057518971(G;G)
Significance Probable-Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene LMNA
CLNDBN Congenital muscular dystrophy
Reversed 0
HGVS NC_000001.10:g.156084839G>T
CLNSRC
CLNACC RCV000415420.1,