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rs113994109

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994109(A;A)
Make rs113994109(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position110179370
GeneCOL4A1
is asnp
is mentioned by
dbSNPrs113994109
ebirs113994109
HLIrs113994109
Exacrs113994109
Varsomers113994109
Maprs113994109
PheGenIrs113994109
hapmaprs113994109
1000 genomesrs113994109
hgdprs113994109
ensemblrs113994109
gopubmedrs113994109
geneviewrs113994109
scholarrs113994109
googlers113994109
pharmgkbrs113994109
gwascentralrs113994109
openSNPrs113994109
23andMers113994109
23andMe allrs113994109
SNP Nexus

SNPshotrs113994109
SNPdbers113994109
MSV3drs113994109
GWAS Ctlgrs113994109
Max Magnitude0
OMIM120130
Desc
Variant0002
Relatedalso
ClinVar
Risk rs113994109(A;A)
Alt rs113994109(A;A)
Reference rs113994109(G;G)
Significance Pathogenic
Disease Porencephaly 1
Variation info
Gene COL4A1
CLNDBN Porencephaly 1
Reversed 1
HGVS NC_000013.10:g.110831717C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018956.25,