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rs267606744

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606744(C;C)
Make rs267606744(C;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position110192258
GeneCOL4A1
is asnp
is mentioned by
dbSNPrs267606744
dbSNP (classic)rs267606744
ClinGenrs267606744
ebirs267606744
HLIrs267606744
Exacrs267606744
Gnomadrs267606744
Varsomers267606744
LitVarrs267606744
Maprs267606744
PheGenIrs267606744
Biobankrs267606744
1000 genomesrs267606744
hgdprs267606744
ensemblrs267606744
geneviewrs267606744
scholarrs267606744
googlers267606744
pharmgkbrs267606744
gwascentralrs267606744
openSNPrs267606744
23andMers267606744
SNPshotrs267606744
SNPdbers267606744
MSV3drs267606744
GWAS Ctlgrs267606744
Max Magnitude0
ClinVar
Risk rs267606744(C;C)
Alt rs267606744(C;C)
Reference Rs267606744(G;G)
Significance Pathogenic
Disease Angiopathy
Variation info
Gene COL4A1
CLNDBN Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Reversed 1
HGVS NC_000013.10:g.110844605C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018966.28,