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rs1057517728

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517728(A;A)
Make rs1057517728(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position48570129
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1057517728
dbSNP (old)rs1057517728
ClinGenrs1057517728
ebirs1057517728
HLIrs1057517728
Exacrs1057517728
Gnomadrs1057517728
Varsomers1057517728
Maprs1057517728
PheGenIrs1057517728
Biobankrs1057517728
1000 genomesrs1057517728
hgdprs1057517728
ensemblrs1057517728
gopubmedrs1057517728
geneviewrs1057517728
scholarrs1057517728
googlers1057517728
pharmgkbrs1057517728
gwascentralrs1057517728
openSNPrs1057517728
23andMers1057517728
23andMe allrs1057517728
SNPshotrs1057517728
SNPdbers1057517728
MSV3drs1057517728
GWAS Ctlgrs1057517728
Max Magnitude0
ClinVar
Risk rs1057517728(A;A)
Alt rs1057517728(A;A)
Reference Rs1057517728(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene COL7A1
CLNDBN not provided
Reversed 1
HGVS NC_000003.11:g.48607562C>T
CLNSRC
CLNACC RCV000414518.1,