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rs201879417

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201879417(A;A)
Make rs201879417(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position46125782
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs201879417
ebirs201879417
HLIrs201879417
Exacrs201879417
Varsomers201879417
Maprs201879417
PheGenIrs201879417
hapmaprs201879417
1000 genomesrs201879417
hgdprs201879417
ensemblrs201879417
gopubmedrs201879417
geneviewrs201879417
scholarrs201879417
googlers201879417
pharmgkbrs201879417
gwascentralrs201879417
openSNPrs201879417
23andMers201879417
23andMe allrs201879417
SNP Nexus

SNPshotrs201879417
SNPdbers201879417
MSV3drs201879417
GWAS Ctlgrs201879417
Max Magnitude0
ClinVar
Risk rs201879417(A;A)
Alt rs201879417(A;A)
Reference rs201879417(C;C)
Significance Probable-Pathogenic
Disease not provided not specified
Variation info
Gene COL6A2
CLNDBN not provided not specified
Reversed 0
HGVS NC_000021.8:g.47545696C>A
CLNSRC HGMD
CLNACC RCV000079866.5, RCV000235163.1,