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rs113994106

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994106(A;A)
Make rs113994106(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position110187283
GeneCOL4A1
is asnp
is mentioned by
dbSNPrs113994106
dbSNP (classic)rs113994106
ClinGenrs113994106
ebirs113994106
HLIrs113994106
Exacrs113994106
Gnomadrs113994106
Varsomers113994106
LitVarrs113994106
Maprs113994106
PheGenIrs113994106
Biobankrs113994106
1000 genomesrs113994106
hgdprs113994106
ensemblrs113994106
geneviewrs113994106
scholarrs113994106
googlers113994106
pharmgkbrs113994106
gwascentralrs113994106
openSNPrs113994106
23andMers113994106
SNPshotrs113994106
SNPdbers113994106
MSV3drs113994106
GWAS Ctlgrs113994106
Max Magnitude0
OMIM120130
Desc
Variant0009
Relatedalso
ClinVar
Risk rs113994106(A;A)
Alt rs113994106(A;A)
Reference Rs113994106(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.110839630C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018963.29,