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rs587777678

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(AGGTAGAAACAAG;AGGTAGAAACAAG) 0 common in clinvar
(CTTGTTTCTACCT;CTTGTTTCTACCT) 0 common in clinvar
(CTTGTTTCTACCTA;CTTGTTTCTACCTA) 0 common in clinvar
Make rs587777678(-;-)
Make rs587777678(-;AGGTAGAAACAAG)
ReferenceGRCh38 38.1/142
Chromosome18
Position6956768
GeneLAMA1, LOC101927188
is asnp
is mentioned by
dbSNPrs587777678
dbSNP (old)rs587777678
ClinGenrs587777678
ebirs587777678
HLIrs587777678
Exacrs587777678
Gnomadrs587777678
Varsomers587777678
Maprs587777678
PheGenIrs587777678
Biobankrs587777678
1000 genomesrs587777678
hgdprs587777678
ensemblrs587777678
gopubmedrs587777678
geneviewrs587777678
scholarrs587777678
googlers587777678
pharmgkbrs587777678
gwascentralrs587777678
openSNPrs587777678
23andMers587777678
23andMe allrs587777678
SNP Nexus

SNPshotrs587777678
SNPdbers587777678
MSV3drs587777678
GWAS Ctlgrs587777678
Max Magnitude0
ClinVar
Risk Rs587777678(AGGTAGAAACAAG;AGGTAGAAACAAG) rs587777678(-;-)
Alt Rs587777678(AGGTAGAAACAAG;AGGTAGAAACAAG) rs587777678(-;-)
Reference Rs587777678(CTTGTTTCTACCT;CTTGTTTCTACCT)
Significance Pathogenic
Disease Poretti-boltshauser syndrome
Variation info
Gene LOC101927188 LAMA1
CLNDBN Poretti-boltshauser syndrome
Reversed 1
HGVS NC_000018.9:g.6956767_6956779delAGGTAGAAACAAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000133605.5,