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rs794728049

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728049(G;T)
Make rs794728049(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position188999480
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs794728049
dbSNP (classic)rs794728049
ClinGenrs794728049
ebirs794728049
HLIrs794728049
Exacrs794728049
Gnomadrs794728049
Varsomers794728049
LitVarrs794728049
Maprs794728049
PheGenIrs794728049
Biobankrs794728049
1000 genomesrs794728049
hgdprs794728049
ensemblrs794728049
geneviewrs794728049
scholarrs794728049
googlers794728049
pharmgkbrs794728049
gwascentralrs794728049
openSNPrs794728049
23andMers794728049
SNPshotrs794728049
SNPdbers794728049
MSV3drs794728049
GWAS Ctlgrs794728049
Max Magnitude0
ClinVar
Risk rs794728049(T;T)
Alt rs794728049(T;T)
Reference Rs794728049(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene COL3A1
CLNDBN not provided
Reversed 0
HGVS NC_000002.11:g.189864206G>T
CLNSRC
CLNACC RCV000181094.1,