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rs797045182

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045182(-;-)
Make rs797045182(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position6973130
GeneLAMA1
is asnp
is mentioned by
dbSNPrs797045182
dbSNP (old)rs797045182
ClinGenrs797045182
ebirs797045182
HLIrs797045182
Exacrs797045182
Gnomadrs797045182
Varsomers797045182
Maprs797045182
PheGenIrs797045182
Biobankrs797045182
1000 genomesrs797045182
hgdprs797045182
ensemblrs797045182
gopubmedrs797045182
geneviewrs797045182
scholarrs797045182
googlers797045182
pharmgkbrs797045182
gwascentralrs797045182
openSNPrs797045182
23andMers797045182
23andMe allrs797045182
SNP Nexus

SNPshotrs797045182
SNPdbers797045182
MSV3drs797045182
GWAS Ctlgrs797045182
Max Magnitude0
ClinVar
Risk rs797045182(-;-)
Alt rs797045182(-;-)
Reference Rs797045182(C;C)
Significance Pathogenic
Disease Poretti-boltshauser syndrome
Variation info
Gene LAMA1
CLNDBN Poretti-boltshauser syndrome
Reversed 1
HGVS NC_000018.9:g.6973129delG
CLNSRC
CLNACC RCV000191927.1,