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rs587777677

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777677(A;C)
Make rs587777677(C;C)
ReferenceGRCh38 38.1/142
Chromosome18
Position7050692
GeneLAMA1
is asnp
is mentioned by
dbSNPrs587777677
ebirs587777677
HLIrs587777677
Exacrs587777677
Varsomers587777677
Maprs587777677
PheGenIrs587777677
hapmaprs587777677
1000 genomesrs587777677
hgdprs587777677
ensemblrs587777677
gopubmedrs587777677
geneviewrs587777677
scholarrs587777677
googlers587777677
pharmgkbrs587777677
gwascentralrs587777677
openSNPrs587777677
23andMers587777677
23andMe allrs587777677
SNP Nexus

SNPshotrs587777677
SNPdbers587777677
MSV3drs587777677
GWAS Ctlgrs587777677
Max Magnitude0
ClinVar
Risk rs587777677(A,C;A,C)
Alt rs587777677(A,C;A,C)
Reference rs587777677(T;T)
Significance Pathogenic
Disease Poretti-boltshauser syndrome
Variation info
Gene LAMA1
CLNDBN Poretti-boltshauser syndrome
Reversed 1
HGVS NC_000018.9:g.7050691A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000133604.2,