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rs730880321

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880321(-;-)
Make rs730880321(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position14885749
GeneMGP
is asnp
is mentioned by
dbSNPrs730880321
dbSNP (classic)rs730880321
ClinGenrs730880321
ebirs730880321
HLIrs730880321
Exacrs730880321
Gnomadrs730880321
Varsomers730880321
LitVarrs730880321
Maprs730880321
PheGenIrs730880321
Biobankrs730880321
1000 genomesrs730880321
hgdprs730880321
ensemblrs730880321
geneviewrs730880321
scholarrs730880321
googlers730880321
pharmgkbrs730880321
gwascentralrs730880321
openSNPrs730880321
23andMers730880321
SNPshotrs730880321
SNPdbers730880321
MSV3drs730880321
GWAS Ctlgrs730880321
Max Magnitude0
ClinVar
Risk rs730880321(-;-)
Alt rs730880321(-;-)
Reference Rs730880321(G;G)
Significance Pathogenic
Disease Keutel syndrome
Variation info
Gene MGP
CLNDBN Keutel syndrome
Reversed 1
HGVS NC_000012.11:g.15038683delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000015415.26,