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rs1057520566

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057520566(A;A)
Make rs1057520566(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position48581758
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1057520566
dbSNP (old)rs1057520566
ClinGenrs1057520566
ebirs1057520566
HLIrs1057520566
Exacrs1057520566
Gnomadrs1057520566
Varsomers1057520566
LitVarrs1057520566
Maprs1057520566
PheGenIrs1057520566
Biobankrs1057520566
1000 genomesrs1057520566
hgdprs1057520566
ensemblrs1057520566
gopubmedrs1057520566
geneviewrs1057520566
scholarrs1057520566
googlers1057520566
pharmgkbrs1057520566
gwascentralrs1057520566
openSNPrs1057520566
23andMers1057520566
23andMe allrs1057520566
SNPshotrs1057520566
SNPdbers1057520566
MSV3drs1057520566
GWAS Ctlgrs1057520566
Max Magnitude0
ClinVar
Risk rs1057520566(A;A)
Alt rs1057520566(A;A)
Reference Rs1057520566(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene COL7A1
CLNDBN not provided
Reversed 1
HGVS NC_000003.11:g.48619191C>T
CLNSRC
CLNACC RCV000435098.1,