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rs797044949

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044949(G;T)
Make rs797044949(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position94412078
GeneCOL1A2
is asnp
is mentioned by
dbSNPrs797044949
dbSNP (classic)rs797044949
ClinGenrs797044949
ebirs797044949
HLIrs797044949
Exacrs797044949
Gnomadrs797044949
Varsomers797044949
LitVarrs797044949
Maprs797044949
PheGenIrs797044949
Biobankrs797044949
1000 genomesrs797044949
hgdprs797044949
ensemblrs797044949
geneviewrs797044949
scholarrs797044949
googlers797044949
pharmgkbrs797044949
gwascentralrs797044949
openSNPrs797044949
23andMers797044949
SNPshotrs797044949
SNPdbers797044949
MSV3drs797044949
GWAS Ctlgrs797044949
Max Magnitude0
ClinVar
Risk rs797044949(T;T)
Alt rs797044949(T;T)
Reference Rs797044949(G;G)
Significance Pathogenic
Disease Inborn genetic diseases
Variation info
Gene COL1A2
CLNDBN Inborn genetic diseases
Reversed 0
HGVS NC_000007.13:g.94041390G>T
CLNSRC
CLNACC RCV000190801.1,