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rs1057517965

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517965(-;TCCTGGTGC)
Make rs1057517965(TCCTGGTGC;TCCTGGTGC)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position50188578
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs1057517965
dbSNP (old)rs1057517965
ClinGenrs1057517965
ebirs1057517965
HLIrs1057517965
Exacrs1057517965
Gnomadrs1057517965
Varsomers1057517965
LitVarrs1057517965
Maprs1057517965
PheGenIrs1057517965
Biobankrs1057517965
1000 genomesrs1057517965
hgdprs1057517965
ensemblrs1057517965
gopubmedrs1057517965
geneviewrs1057517965
scholarrs1057517965
googlers1057517965
pharmgkbrs1057517965
gwascentralrs1057517965
openSNPrs1057517965
23andMers1057517965
23andMe allrs1057517965
SNPshotrs1057517965
SNPdbers1057517965
MSV3drs1057517965
GWAS Ctlgrs1057517965
Max Magnitude0
ClinVar
Risk rs1057517965(TCCTGGTGC;TCCTGGTGC)
Alt rs1057517965(TCCTGGTGC;TCCTGGTGC)
Reference Rs1057517965(-;-)
Significance Pathogenic
Disease not provided
Variation info
Gene COL1A1
CLNDBN not provided
Reversed 1
HGVS NC_000017.10:g.48265940_48265948dupGCACCAGGA
CLNSRC
CLNACC RCV000414247.1,