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rs113994113

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994113(C;C)
Make rs113994113(C;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position110162425
GeneCOL4A1
is asnp
is mentioned by
dbSNPrs113994113
ebirs113994113
HLIrs113994113
Exacrs113994113
Varsomers113994113
Maprs113994113
PheGenIrs113994113
hapmaprs113994113
1000 genomesrs113994113
hgdprs113994113
ensemblrs113994113
gopubmedrs113994113
geneviewrs113994113
scholarrs113994113
googlers113994113
pharmgkbrs113994113
gwascentralrs113994113
openSNPrs113994113
23andMers113994113
23andMe allrs113994113
SNP Nexus

SNPshotrs113994113
SNPdbers113994113
MSV3drs113994113
GWAS Ctlgrs113994113
Max Magnitude0
OMIM120130
Desc
Variant0006
Relatedalso
ClinVar
Risk rs113994113(C;C)
Alt rs113994113(C;C)
Reference rs113994113(G;G)
Significance Pathogenic
Disease Porencephaly 1
Variation info
Gene COL4A1
CLNDBN Porencephaly 1
Reversed 1
HGVS NC_000013.10:g.110814772C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018960.24,