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rs587780362

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587780362(-;G)
Make rs587780362(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position55698486
GeneITGA7
is asnp
is mentioned by
dbSNPrs587780362
dbSNP (classic)rs587780362
ClinGenrs587780362
ebirs587780362
HLIrs587780362
Exacrs587780362
Gnomadrs587780362
Varsomers587780362
LitVarrs587780362
Maprs587780362
PheGenIrs587780362
Biobankrs587780362
1000 genomesrs587780362
hgdprs587780362
ensemblrs587780362
geneviewrs587780362
scholarrs587780362
googlers587780362
pharmgkbrs587780362
gwascentralrs587780362
openSNPrs587780362
23andMers587780362
SNPshotrs587780362
SNPdbers587780362
MSV3drs587780362
GWAS Ctlgrs587780362
Max Magnitude0
ClinVar
Risk rs587780362(G;G)
Alt rs587780362(G;G)
Reference Rs587780362(-;-)
Significance Pathogenic
Disease Muscular dystrophy
Variation info
Gene ITGA7
CLNDBN Muscular dystrophy, congenital, due to ITGA7 deficiency
Reversed 1
HGVS NC_000012.11:g.56092271dupC
CLNSRC
CLNACC RCV000117292.1,