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rs587777679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777679(-;-)
Make rs587777679(-;T)
ReferenceGRCh38 38.1/142
Chromosome18
Position7016494
GeneLAMA1
is asnp
is mentioned by
dbSNPrs587777679
ebirs587777679
HLIrs587777679
Exacrs587777679
Varsomers587777679
Maprs587777679
PheGenIrs587777679
hapmaprs587777679
1000 genomesrs587777679
hgdprs587777679
ensemblrs587777679
gopubmedrs587777679
geneviewrs587777679
scholarrs587777679
googlers587777679
pharmgkbrs587777679
gwascentralrs587777679
openSNPrs587777679
23andMers587777679
23andMe allrs587777679
SNP Nexus

SNPshotrs587777679
SNPdbers587777679
MSV3drs587777679
GWAS Ctlgrs587777679
Max Magnitude0
ClinVar
Risk rs587777679(;)
Alt rs587777679(;)
Reference rs587777679(T;T)
Significance Pathogenic
Disease Poretti-boltshauser syndrome
Variation info
Gene LAMA1
CLNDBN Poretti-boltshauser syndrome
Reversed 0
HGVS NC_000018.9:g.7016493delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000133606.3,