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rs1057517969

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517969(C;C)
Make rs1057517969(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position48572923
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1057517969
dbSNP (classic)rs1057517969
ClinGenrs1057517969
ebirs1057517969
HLIrs1057517969
Exacrs1057517969
Gnomadrs1057517969
Varsomers1057517969
LitVarrs1057517969
Maprs1057517969
PheGenIrs1057517969
Biobankrs1057517969
1000 genomesrs1057517969
hgdprs1057517969
ensemblrs1057517969
geneviewrs1057517969
scholarrs1057517969
googlers1057517969
pharmgkbrs1057517969
gwascentralrs1057517969
openSNPrs1057517969
23andMers1057517969
23andMe allrs1057517969
SNPshotrs1057517969
SNPdbers1057517969
MSV3drs1057517969
GWAS Ctlgrs1057517969
Max Magnitude0
ClinVar
Risk rs1057517969(C;C)
Alt rs1057517969(C;C)
Reference Rs1057517969(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene COL7A1
CLNDBN not provided
Reversed 1
HGVS NC_000003.11:g.48610356C>G
CLNSRC
CLNACC RCV000413930.1,