Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517724

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517724(C;C)
Make rs1057517724(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position48576771
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1057517724
dbSNP (old)rs1057517724
ClinGenrs1057517724
ebirs1057517724
HLIrs1057517724
Exacrs1057517724
Gnomadrs1057517724
Varsomers1057517724
Maprs1057517724
PheGenIrs1057517724
Biobankrs1057517724
1000 genomesrs1057517724
hgdprs1057517724
ensemblrs1057517724
gopubmedrs1057517724
geneviewrs1057517724
scholarrs1057517724
googlers1057517724
pharmgkbrs1057517724
gwascentralrs1057517724
openSNPrs1057517724
23andMers1057517724
23andMe allrs1057517724
SNPshotrs1057517724
SNPdbers1057517724
MSV3drs1057517724
GWAS Ctlgrs1057517724
Max Magnitude0
ClinVar
Risk rs1057517724(C;C)
Alt rs1057517724(C;C)
Reference Rs1057517724(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene COL7A1
CLNDBN not provided
Reversed 1
HGVS NC_000003.11:g.48614204C>G
CLNSRC
CLNACC RCV000412944.1,