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rs113828929

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113828929(A;A)
Make rs113828929(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome21
Position46126238
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs113828929
dbSNP (old)rs113828929
ClinGenrs113828929
ebirs113828929
HLIrs113828929
Exacrs113828929
Gnomadrs113828929
Varsomers113828929
Maprs113828929
PheGenIrs113828929
Biobankrs113828929
1000 genomesrs113828929
hgdprs113828929
ensemblrs113828929
gopubmedrs113828929
geneviewrs113828929
scholarrs113828929
googlers113828929
pharmgkbrs113828929
gwascentralrs113828929
openSNPrs113828929
23andMers113828929
23andMe allrs113828929
SNPshotrs113828929
SNPdbers113828929
MSV3drs113828929
GWAS Ctlgrs113828929
Max Magnitude0
ClinVar
Risk rs113828929(A;A)
Alt rs113828929(A;A)
Reference Rs113828929(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene COL6A2
CLNDBN not provided
Reversed 0
HGVS NC_000021.8:g.47546152G>A
CLNSRC
CLNACC RCV000332897.1,