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rs1057520599

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057520599(A;A)
Make rs1057520599(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position48575410
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1057520599
dbSNP (classic)rs1057520599
ClinGenrs1057520599
ebirs1057520599
HLIrs1057520599
Exacrs1057520599
Gnomadrs1057520599
Varsomers1057520599
LitVarrs1057520599
Maprs1057520599
PheGenIrs1057520599
Biobankrs1057520599
1000 genomesrs1057520599
hgdprs1057520599
ensemblrs1057520599
geneviewrs1057520599
scholarrs1057520599
googlers1057520599
pharmgkbrs1057520599
gwascentralrs1057520599
openSNPrs1057520599
23andMers1057520599
23andMe allrs1057520599
SNPshotrs1057520599
SNPdbers1057520599
MSV3drs1057520599
GWAS Ctlgrs1057520599
Max Magnitude0
ClinVar
Risk rs1057520599(A;A)
Alt rs1057520599(A;A)
Reference Rs1057520599(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene COL7A1
CLNDBN not provided
Reversed 1
HGVS NC_000003.11:g.48612843C>T
CLNSRC
CLNACC RCV000436809.1,