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rs113994112

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994112(A;A)
Make rs113994112(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position110170583
GeneCOL4A1
is asnp
is mentioned by
dbSNPrs113994112
ebirs113994112
HLIrs113994112
Exacrs113994112
Varsomers113994112
Maprs113994112
PheGenIrs113994112
hapmaprs113994112
1000 genomesrs113994112
hgdprs113994112
ensemblrs113994112
gopubmedrs113994112
geneviewrs113994112
scholarrs113994112
googlers113994112
pharmgkbrs113994112
gwascentralrs113994112
openSNPrs113994112
23andMers113994112
23andMe allrs113994112
SNP Nexus

SNPshotrs113994112
SNPdbers113994112
MSV3drs113994112
GWAS Ctlgrs113994112
Max Magnitude0
OMIM120130
Desc
Variant0001
Relatedalso
ClinVar
Risk rs113994112(A;A)
Alt rs113994112(A;A)
Reference rs113994112(G;G)
Significance Pathogenic
Disease Porencephaly 1
Variation info
Gene COL4A1
CLNDBN Porencephaly 1
Reversed 1
HGVS NC_000013.10:g.110822930C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018955.23,