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

rs1057517727

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517727(A;A)
Make rs1057517727(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position48571269
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1057517727
dbSNP (old)rs1057517727
ClinGenrs1057517727
ebirs1057517727
HLIrs1057517727
Exacrs1057517727
Gnomadrs1057517727
Varsomers1057517727
LitVarrs1057517727
Maprs1057517727
PheGenIrs1057517727
Biobankrs1057517727
1000 genomesrs1057517727
hgdprs1057517727
ensemblrs1057517727
gopubmedrs1057517727
geneviewrs1057517727
scholarrs1057517727
googlers1057517727
pharmgkbrs1057517727
gwascentralrs1057517727
openSNPrs1057517727
23andMers1057517727
23andMe allrs1057517727
SNPshotrs1057517727
SNPdbers1057517727
MSV3drs1057517727
GWAS Ctlgrs1057517727
Max Magnitude0
ClinVar
Risk rs1057517727(A;A)
Alt rs1057517727(A;A)
Reference Rs1057517727(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene COL7A1
CLNDBN not provided
Reversed 1
HGVS NC_000003.11:g.48608702C>T
CLNSRC
CLNACC RCV000413226.1,