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rs587777681

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777681(A;C)
Make rs587777681(C;C)
ReferenceGRCh38 38.1/142
Chromosome18
Position7050727
GeneLAMA1
is asnp
is mentioned by
dbSNPrs587777681
ebirs587777681
HLIrs587777681
Exacrs587777681
Varsomers587777681
Maprs587777681
PheGenIrs587777681
hapmaprs587777681
1000 genomesrs587777681
hgdprs587777681
ensemblrs587777681
gopubmedrs587777681
geneviewrs587777681
scholarrs587777681
googlers587777681
pharmgkbrs587777681
gwascentralrs587777681
openSNPrs587777681
23andMers587777681
23andMe allrs587777681
SNP Nexus

SNPshotrs587777681
SNPdbers587777681
MSV3drs587777681
GWAS Ctlgrs587777681
Max Magnitude0
ClinVar
Risk rs587777681(A,C;A,C)
Alt rs587777681(A,C;A,C)
Reference rs587777681(T;T)
Significance Pathogenic
Disease Poretti-boltshauser syndrome
Variation info
Gene LAMA1
CLNDBN Poretti-boltshauser syndrome
Reversed 1
HGVS NC_000018.9:g.7050726A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000133608.5,