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

rs1057520567

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057520567(A;A)
Make rs1057520567(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position48581129
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1057520567
dbSNP (old)rs1057520567
ClinGenrs1057520567
ebirs1057520567
HLIrs1057520567
Exacrs1057520567
Gnomadrs1057520567
Varsomers1057520567
LitVarrs1057520567
Maprs1057520567
PheGenIrs1057520567
Biobankrs1057520567
1000 genomesrs1057520567
hgdprs1057520567
ensemblrs1057520567
gopubmedrs1057520567
geneviewrs1057520567
scholarrs1057520567
googlers1057520567
pharmgkbrs1057520567
gwascentralrs1057520567
openSNPrs1057520567
23andMers1057520567
23andMe allrs1057520567
SNPshotrs1057520567
SNPdbers1057520567
MSV3drs1057520567
GWAS Ctlgrs1057520567
Max Magnitude0
ClinVar
Risk rs1057520567(A;A)
Alt rs1057520567(A;A)
Reference Rs1057520567(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene COL7A1
CLNDBN not provided
Reversed 1
HGVS NC_000003.11:g.48618562C>T
CLNSRC
CLNACC RCV000417818.1,