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rs1042917

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1042917(A;A)
Make rs1042917(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position46125854
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs1042917
dbSNP (old)rs1042917
ClinGenrs1042917
ebirs1042917
HLIrs1042917
Exacrs1042917
Gnomadrs1042917
Varsomers1042917
Maprs1042917
PheGenIrs1042917
Biobankrs1042917
1000 genomesrs1042917
hgdprs1042917
ensemblrs1042917
gopubmedrs1042917
geneviewrs1042917
scholarrs1042917
googlers1042917
pharmgkbrs1042917
gwascentralrs1042917
openSNPrs1042917
23andMers1042917
23andMe allrs1042917
SNPshotrs1042917
SNPdbers1042917
MSV3drs1042917
GWAS Ctlgrs1042917
GMAF0.4421
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 20466643] [Development of 3-enzyme pyrosequencing system and its application in rapid diagnosis of Down's syndrome].



ClinVar
Risk rs1042917(A;A) rs1042917(T;T)
Alt rs1042917(A;A) rs1042917(T;T)
Reference Rs1042917(G;G)
Significance Non-pathogenic
Disease not specified Myosclerosis Collagen VI-related myopathy
Variation info
Gene COL6A2
CLNDBN not specified Myosclerosis Collagen VI-related myopathy
Reversed 0
HGVS NC_000021.8:g.47545768G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000079868.6, RCV000320471.1, RCV000380396.1,