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rs797045034

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045034(A;A)
Make rs797045034(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position110177896
GeneCOL4A1
is asnp
is mentioned by
dbSNPrs797045034
dbSNP (classic)rs797045034
ClinGenrs797045034
ebirs797045034
HLIrs797045034
Exacrs797045034
Gnomadrs797045034
Varsomers797045034
LitVarrs797045034
Maprs797045034
PheGenIrs797045034
Biobankrs797045034
1000 genomesrs797045034
hgdprs797045034
ensemblrs797045034
geneviewrs797045034
scholarrs797045034
googlers797045034
pharmgkbrs797045034
gwascentralrs797045034
openSNPrs797045034
23andMers797045034
SNPshotrs797045034
SNPdbers797045034
MSV3drs797045034
GWAS Ctlgrs797045034
Max Magnitude0
ClinVar
Risk rs797045034(A;A)
Alt rs797045034(A;A)
Reference Rs797045034(G;G)
Significance Probable-Pathogenic
Disease Brain small vessel disease with hemorrhage Porencephaly 1
Variation info
Gene COL4A1
CLNDBN Brain small vessel disease with hemorrhage Porencephaly 1
Reversed 1
HGVS NC_000013.10:g.110830243C>T
CLNSRC Baylor College of Medicine
CLNACC RCV000191072.1,