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rs1057518863

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518863(A;A)
Make rs1057518863(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position48567190
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs1057518863
dbSNP (old)rs1057518863
ClinGenrs1057518863
ebirs1057518863
HLIrs1057518863
Exacrs1057518863
Gnomadrs1057518863
Varsomers1057518863
LitVarrs1057518863
Maprs1057518863
PheGenIrs1057518863
Biobankrs1057518863
1000 genomesrs1057518863
hgdprs1057518863
ensemblrs1057518863
gopubmedrs1057518863
geneviewrs1057518863
scholarrs1057518863
googlers1057518863
pharmgkbrs1057518863
gwascentralrs1057518863
openSNPrs1057518863
23andMers1057518863
23andMe allrs1057518863
SNPshotrs1057518863
SNPdbers1057518863
MSV3drs1057518863
GWAS Ctlgrs1057518863
Max Magnitude0
ClinVar
Risk rs1057518863(A;A)
Alt rs1057518863(A;A)
Reference Rs1057518863(G;G)
Significance Probable-Pathogenic
Disease Finger syndactyly Palmoplantar blistering Short stature Toe syndactyly
Variation info
Gene COL7A1
CLNDBN Finger syndactyly Palmoplantar blistering Short stature Toe syndactyly
Reversed 1
HGVS NC_000003.11:g.48604623C>T
CLNSRC
CLNACC RCV000415010.1,