Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057517988

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517988(A;A)
Make rs1057517988(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position46115926
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs1057517988
dbSNP (old)rs1057517988
ClinGenrs1057517988
ebirs1057517988
HLIrs1057517988
Exacrs1057517988
Gnomadrs1057517988
Varsomers1057517988
Maprs1057517988
PheGenIrs1057517988
Biobankrs1057517988
1000 genomesrs1057517988
hgdprs1057517988
ensemblrs1057517988
gopubmedrs1057517988
geneviewrs1057517988
scholarrs1057517988
googlers1057517988
pharmgkbrs1057517988
gwascentralrs1057517988
openSNPrs1057517988
23andMers1057517988
23andMe allrs1057517988
SNPshotrs1057517988
SNPdbers1057517988
MSV3drs1057517988
GWAS Ctlgrs1057517988
Max Magnitude0
ClinVar
Risk rs1057517988(A;A)
Alt rs1057517988(A;A)
Reference Rs1057517988(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene COL6A2
CLNDBN not provided
Reversed 0
HGVS NC_000021.8:g.47535840G>A
CLNSRC
CLNACC RCV000414393.1,