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rs113994104

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994104(G;T)
Make rs113994104(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position110192257
GeneCOL4A1
is asnp
is mentioned by
dbSNPrs113994104
ebirs113994104
HLIrs113994104
Exacrs113994104
Varsomers113994104
Maprs113994104
PheGenIrs113994104
hapmaprs113994104
1000 genomesrs113994104
hgdprs113994104
ensemblrs113994104
gopubmedrs113994104
geneviewrs113994104
scholarrs113994104
googlers113994104
pharmgkbrs113994104
gwascentralrs113994104
openSNPrs113994104
23andMers113994104
23andMe allrs113994104
SNP Nexus

SNPshotrs113994104
SNPdbers113994104
MSV3drs113994104
GWAS Ctlgrs113994104
Max Magnitude0
OMIM120130
Desc
Variant0007
Relatedalso
ClinVar
Risk rs113994104(T;T)
Alt rs113994104(T;T)
Reference rs113994104(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.110844604C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018961.27,