Have questions? Visit https://www.reddit.com/r/SNPedia

rs747912732

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs747912732(-;C)
Make rs747912732(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position48585068
GeneCOL7A1
is asnp
is mentioned by
dbSNPrs747912732
dbSNP (classic)rs747912732
ClinGenrs747912732
ebirs747912732
HLIrs747912732
Exacrs747912732
Gnomadrs747912732
Varsomers747912732
LitVarrs747912732
Maprs747912732
PheGenIrs747912732
Biobankrs747912732
1000 genomesrs747912732
hgdprs747912732
ensemblrs747912732
geneviewrs747912732
scholarrs747912732
googlers747912732
pharmgkbrs747912732
gwascentralrs747912732
openSNPrs747912732
23andMers747912732
SNPshotrs747912732
SNPdbers747912732
MSV3drs747912732
GWAS Ctlgrs747912732
Max Magnitude0
ClinVar
Risk rs747912732(C;C)
Alt rs747912732(C;C)
Reference Rs747912732(-;-)
Significance Pathogenic
Disease not provided
Variation info
Gene COL7A1
CLNDBN not provided
Reversed 0
HGVS NC_000003.11:g.48622502dupC
CLNSRC
CLNACC RCV000274389.1,