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rs1057520693

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057520693(G;T)
Make rs1057520693(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position48567135
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1057520693
dbSNP (old)rs1057520693
ClinGenrs1057520693
ebirs1057520693
HLIrs1057520693
Exacrs1057520693
Gnomadrs1057520693
Varsomers1057520693
Maprs1057520693
PheGenIrs1057520693
Biobankrs1057520693
1000 genomesrs1057520693
hgdprs1057520693
ensemblrs1057520693
gopubmedrs1057520693
geneviewrs1057520693
scholarrs1057520693
googlers1057520693
pharmgkbrs1057520693
gwascentralrs1057520693
openSNPrs1057520693
23andMers1057520693
23andMe allrs1057520693
SNPshotrs1057520693
SNPdbers1057520693
MSV3drs1057520693
GWAS Ctlgrs1057520693
Max Magnitude0
ClinVar
Risk rs1057520693(T;T)
Alt rs1057520693(T;T)
Reference Rs1057520693(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene COL7A1
CLNDBN not provided
Reversed 1
HGVS NC_000003.11:g.48604568C>A
CLNSRC
CLNACC RCV000422881.1,