Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045184

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045184(C;C)
Make rs797045184(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position6977724
GeneLAMA1
is asnp
is mentioned by
dbSNPrs797045184
ebirs797045184
HLIrs797045184
Exacrs797045184
Varsomers797045184
Maprs797045184
PheGenIrs797045184
hapmaprs797045184
1000 genomesrs797045184
hgdprs797045184
ensemblrs797045184
gopubmedrs797045184
geneviewrs797045184
scholarrs797045184
googlers797045184
pharmgkbrs797045184
gwascentralrs797045184
openSNPrs797045184
23andMers797045184
23andMe allrs797045184
SNP Nexus

SNPshotrs797045184
SNPdbers797045184
MSV3drs797045184
GWAS Ctlgrs797045184
Max Magnitude0
ClinVar
Risk rs797045184(C;C)
Alt rs797045184(C;C)
Reference rs797045184(G;G)
Significance Pathogenic
Disease Poretti-boltshauser syndrome
Variation info
Gene LAMA1
CLNDBN Poretti-boltshauser syndrome
Reversed 1
HGVS NC_000018.9:g.6977723C>G
CLNSRC
CLNACC RCV000191931.1,