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rs1057518005

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518005(C;C)
Make rs1057518005(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position45992022
GeneCOL6A1
is asnp
is mentioned by
dbSNPrs1057518005
dbSNP (old)rs1057518005
ClinGenrs1057518005
ebirs1057518005
HLIrs1057518005
Exacrs1057518005
Gnomadrs1057518005
Varsomers1057518005
Maprs1057518005
PheGenIrs1057518005
Biobankrs1057518005
1000 genomesrs1057518005
hgdprs1057518005
ensemblrs1057518005
gopubmedrs1057518005
geneviewrs1057518005
scholarrs1057518005
googlers1057518005
pharmgkbrs1057518005
gwascentralrs1057518005
openSNPrs1057518005
23andMers1057518005
23andMe allrs1057518005
SNPshotrs1057518005
SNPdbers1057518005
MSV3drs1057518005
GWAS Ctlgrs1057518005
Max Magnitude0
ClinVar
Risk rs1057518005(C;C)
Alt rs1057518005(C;C)
Reference Rs1057518005(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene COL6A1
CLNDBN not provided
Reversed 0
HGVS NC_000021.8:g.47411936G>C
CLNSRC
CLNACC RCV000414276.1,