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rs765430501

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs765430501(A;A)
Make rs765430501(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position46119806
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs765430501
dbSNP (classic)rs765430501
ClinGenrs765430501
ebirs765430501
HLIrs765430501
Exacrs765430501
Gnomadrs765430501
Varsomers765430501
LitVarrs765430501
Maprs765430501
PheGenIrs765430501
Biobankrs765430501
1000 genomesrs765430501
hgdprs765430501
ensemblrs765430501
geneviewrs765430501
scholarrs765430501
googlers765430501
pharmgkbrs765430501
gwascentralrs765430501
openSNPrs765430501
23andMers765430501
SNPshotrs765430501
SNPdbers765430501
MSV3drs765430501
GWAS Ctlgrs765430501
Max Magnitude0
ClinVar
Risk rs765430501(A;A)
Alt rs765430501(A;A)
Reference Rs765430501(G;G)
Significance Probable-Pathogenic
Disease not specified not provided
Variation info
Gene COL6A2
CLNDBN not specified not provided
Reversed 0
HGVS NC_000021.8:g.47539720G>A
CLNSRC
CLNACC RCV000299837.1, RCV000490233.1,