Have questions? Visit https://www.reddit.com/r/SNPedia

rs113994111

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994111(A;A)
Make rs113994111(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position110174463
GeneCOL4A1
is asnp
is mentioned by
dbSNPrs113994111
ebirs113994111
HLIrs113994111
Exacrs113994111
Varsomers113994111
Maprs113994111
PheGenIrs113994111
hapmaprs113994111
1000 genomesrs113994111
hgdprs113994111
ensemblrs113994111
gopubmedrs113994111
geneviewrs113994111
scholarrs113994111
googlers113994111
pharmgkbrs113994111
gwascentralrs113994111
openSNPrs113994111
23andMers113994111
23andMe allrs113994111
SNP Nexus

SNPshotrs113994111
SNPdbers113994111
MSV3drs113994111
GWAS Ctlgrs113994111
Max Magnitude0
OMIM120130
Desc
Variant0005
Relatedalso
ClinVar
Risk rs113994111(A;A)
Alt rs113994111(A;A)
Reference rs113994111(G;G)
Significance Pathogenic
Disease Porencephaly 1
Variation info
Gene COL4A1
CLNDBN Porencephaly 1
Reversed 1
HGVS NC_000013.10:g.110826810C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018959.25,