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rs587777039

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777039(C;G)
Make rs587777039(G;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position22836867
GeneMMP14
is asnp
is mentioned by
dbSNPrs587777039
ebirs587777039
HLIrs587777039
Exacrs587777039
Varsomers587777039
Maprs587777039
PheGenIrs587777039
hapmaprs587777039
1000 genomesrs587777039
hgdprs587777039
ensemblrs587777039
gopubmedrs587777039
geneviewrs587777039
scholarrs587777039
googlers587777039
pharmgkbrs587777039
gwascentralrs587777039
openSNPrs587777039
23andMers587777039
23andMe allrs587777039
SNP Nexus

SNPshotrs587777039
SNPdbers587777039
MSV3drs587777039
GWAS Ctlgrs587777039
Max Magnitude0
ClinVar
Risk rs587777039(G;G)
Alt rs587777039(G;G)
Reference rs587777039(C;C)
Significance Pathogenic
Disease Winchester syndrome
Variation info
Gene MMP14
CLNDBN Winchester syndrome
Reversed 0
HGVS NC_000014.8:g.23306076C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000055657.3,