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rs113994114

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994114(C;C)
Make rs113994114(C;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position110155300
GeneCOL4A1
is asnp
is mentioned by
dbSNPrs113994114
ebirs113994114
HLIrs113994114
Exacrs113994114
Varsomers113994114
Maprs113994114
PheGenIrs113994114
hapmaprs113994114
1000 genomesrs113994114
hgdprs113994114
ensemblrs113994114
gopubmedrs113994114
geneviewrs113994114
scholarrs113994114
googlers113994114
pharmgkbrs113994114
gwascentralrs113994114
openSNPrs113994114
23andMers113994114
23andMe allrs113994114
SNP Nexus

SNPshotrs113994114
SNPdbers113994114
MSV3drs113994114
GWAS Ctlgrs113994114
Max Magnitude0
OMIM120130
Desc
Variant0011
Relatedalso
ClinVar
Risk rs113994114(C;C)
Alt rs113994114(C;C)
Reference rs113994114(G;G)
Significance Pathogenic
Disease Porencephaly 1
Variation info
Gene COL4A1
CLNDBN Porencephaly 1
Reversed 1
HGVS NC_000013.10:g.110807647C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018965.30,