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rs1057517722

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517722(-;-)
Make rs1057517722(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position48581138
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1057517722
dbSNP (classic)rs1057517722
ClinGenrs1057517722
ebirs1057517722
HLIrs1057517722
Exacrs1057517722
Gnomadrs1057517722
Varsomers1057517722
LitVarrs1057517722
Maprs1057517722
PheGenIrs1057517722
Biobankrs1057517722
1000 genomesrs1057517722
hgdprs1057517722
ensemblrs1057517722
geneviewrs1057517722
scholarrs1057517722
googlers1057517722
pharmgkbrs1057517722
gwascentralrs1057517722
openSNPrs1057517722
23andMers1057517722
SNPshotrs1057517722
SNPdbers1057517722
MSV3drs1057517722
GWAS Ctlgrs1057517722
Max Magnitude0
ClinVar
Risk rs1057517722(-;-)
Alt rs1057517722(-;-)
Reference Rs1057517722(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene COL7A1
CLNDBN not provided
Reversed 1
HGVS NC_000003.11:g.48618571delC
CLNSRC
CLNACC RCV000413273.1,