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rs797044728

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044728(-;AGTGCCTAACG)
Make rs797044728(AGTGCCTAACG;AGTGCCTAACG)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position129098310
GeneLAMA2
is asnp
is mentioned by
dbSNPrs797044728
ClinGenrs797044728
ebirs797044728
HLIrs797044728
Exacrs797044728
Varsomers797044728
Maprs797044728
PheGenIrs797044728
hapmaprs797044728
1000 genomesrs797044728
hgdprs797044728
ensemblrs797044728
gopubmedrs797044728
geneviewrs797044728
scholarrs797044728
googlers797044728
pharmgkbrs797044728
gwascentralrs797044728
openSNPrs797044728
23andMers797044728
23andMe allrs797044728
SNP Nexus

SNPshotrs797044728
SNPdbers797044728
MSV3drs797044728
GWAS Ctlgrs797044728
Max Magnitude0
ClinVar
Risk rs797044728(GAGTGCCTAAC;GAGTGCCTAAC)
Alt rs797044728(GAGTGCCTAAC;GAGTGCCTAAC)
Reference Rs797044728(-;-)
Significance Pathogenic
Disease Merosin deficient congenital muscular dystrophy
Variation info
Gene LAMA2
CLNDBN Merosin deficient congenital muscular dystrophy
Reversed 0
HGVS NC_000006.11:g.129419445_129419455dupAGTGCCTAACG
CLNSRC
CLNACC RCV000178101.1,