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rs797044643

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044643(-;ATGTTCAC)
Make rs797044643(ATGTTCAC;ATGTTCAC)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position129250184
GeneLAMA2
is asnp
is mentioned by
dbSNPrs797044643
ClinGenrs797044643
ebirs797044643
HLIrs797044643
Exacrs797044643
Varsomers797044643
Maprs797044643
PheGenIrs797044643
hapmaprs797044643
1000 genomesrs797044643
hgdprs797044643
ensemblrs797044643
gopubmedrs797044643
geneviewrs797044643
scholarrs797044643
googlers797044643
pharmgkbrs797044643
gwascentralrs797044643
openSNPrs797044643
23andMers797044643
23andMe allrs797044643
SNP Nexus

SNPshotrs797044643
SNPdbers797044643
MSV3drs797044643
GWAS Ctlgrs797044643
Max Magnitude0
ClinVar
Risk rs797044643(ACATGTTC;ACATGTTC)
Alt rs797044643(ACATGTTC;ACATGTTC)
Reference Rs797044643(;)
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.129571329_129571330insATGTTCAC
CLNSRC
CLNACC RCV000174478.1,