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rs113994103

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113994103(A;T)
Make rs113994103(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position110307027
GeneCOL4A1, COL4A2
is asnp
is mentioned by
dbSNPrs113994103
ebirs113994103
HLIrs113994103
Exacrs113994103
Varsomers113994103
Maprs113994103
PheGenIrs113994103
hapmaprs113994103
1000 genomesrs113994103
hgdprs113994103
ensemblrs113994103
gopubmedrs113994103
geneviewrs113994103
scholarrs113994103
googlers113994103
pharmgkbrs113994103
gwascentralrs113994103
openSNPrs113994103
23andMers113994103
23andMe allrs113994103
SNP Nexus

SNPshotrs113994103
SNPdbers113994103
MSV3drs113994103
GWAS Ctlgrs113994103
Max Magnitude0
OMIM120130
Desc
Variant0004
Relatedalso
ClinVar
Risk rs113994103(T;T)
Alt rs113994103(T;T)
Reference rs113994103(A;A)
Significance Pathogenic
Disease Porencephaly 1
Variation info
Gene COL4A1 COL4A2
CLNDBN Porencephaly 1
Reversed 1
HGVS NC_000013.10:g.110959374T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018958.28,