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rs727502829

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727502829(C;T)
Make rs727502829(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome21
Position46121562
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs727502829
dbSNP (classic)rs727502829
ClinGenrs727502829
ebirs727502829
HLIrs727502829
Exacrs727502829
Gnomadrs727502829
Varsomers727502829
LitVarrs727502829
Maprs727502829
PheGenIrs727502829
Biobankrs727502829
1000 genomesrs727502829
hgdprs727502829
ensemblrs727502829
geneviewrs727502829
scholarrs727502829
googlers727502829
pharmgkbrs727502829
gwascentralrs727502829
openSNPrs727502829
23andMers727502829
SNPshotrs727502829
SNPdbers727502829
MSV3drs727502829
GWAS Ctlgrs727502829
Max Magnitude0
ClinVar
Risk rs727502829(T;T)
Alt rs727502829(T;T)
Reference Rs727502829(C;C)
Significance Probable-Pathogenic
Disease not specified
Variation info
Gene COL6A2
CLNDBN not specified
Reversed 0
HGVS NC_000021.8:g.47541476C>T
CLNSRC
CLNACC RCV000149928.2,