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rs587777680

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs587777680(-;-)
Make rs587777680(-;AT)
ReferenceGRCh38 38.1/142
Chromosome18
Position7016663
GeneLAMA1
is asnp
is mentioned by
dbSNPrs587777680
ebirs587777680
HLIrs587777680
Exacrs587777680
Varsomers587777680
Maprs587777680
PheGenIrs587777680
hapmaprs587777680
1000 genomesrs587777680
hgdprs587777680
ensemblrs587777680
gopubmedrs587777680
geneviewrs587777680
scholarrs587777680
googlers587777680
pharmgkbrs587777680
gwascentralrs587777680
openSNPrs587777680
23andMers587777680
23andMe allrs587777680
SNP Nexus

SNPshotrs587777680
SNPdbers587777680
MSV3drs587777680
GWAS Ctlgrs587777680
Max Magnitude0
ClinVar
Risk rs587777680(;)
Alt rs587777680(;)
Reference rs587777680(AT;AT)
Significance Pathogenic
Disease Poretti-boltshauser syndrome
Variation info
Gene LAMA1
CLNDBN Poretti-boltshauser syndrome
Reversed 1
HGVS NC_000018.9:g.7016662_7016663delAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000133607.4,