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

rs1057517720

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517720(-;TGGA)
Make rs1057517720(TGGA;TGGA)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position48589414
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1057517720
dbSNP (old)rs1057517720
ClinGenrs1057517720
ebirs1057517720
HLIrs1057517720
Exacrs1057517720
Gnomadrs1057517720
Varsomers1057517720
Maprs1057517720
PheGenIrs1057517720
Biobankrs1057517720
1000 genomesrs1057517720
hgdprs1057517720
ensemblrs1057517720
gopubmedrs1057517720
geneviewrs1057517720
scholarrs1057517720
googlers1057517720
pharmgkbrs1057517720
gwascentralrs1057517720
openSNPrs1057517720
23andMers1057517720
23andMe allrs1057517720
SNPshotrs1057517720
SNPdbers1057517720
MSV3drs1057517720
GWAS Ctlgrs1057517720
Max Magnitude0
ClinVar
Risk rs1057517720(TGGA;TGGA)
Alt rs1057517720(TGGA;TGGA)
Reference Rs1057517720(-;-)
Significance Pathogenic
Disease not provided
Variation info
Gene COL7A1
CLNDBN not provided
Reversed 1
HGVS NC_000003.11:g.48626848_48626851dupTCCA
CLNSRC
CLNACC RCV000413419.1,