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rs387906603

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906603(A;A)
Make rs387906603(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position110485739
GeneCOL4A2
is asnp
is mentioned by
dbSNPrs387906603
ebirs387906603
HLIrs387906603
Exacrs387906603
Varsomers387906603
Maprs387906603
PheGenIrs387906603
hapmaprs387906603
1000 genomesrs387906603
hgdprs387906603
ensemblrs387906603
gopubmedrs387906603
geneviewrs387906603
scholarrs387906603
googlers387906603
pharmgkbrs387906603
gwascentralrs387906603
openSNPrs387906603
23andMers387906603
23andMe allrs387906603
SNP Nexus

SNPshotrs387906603
SNPdbers387906603
MSV3drs387906603
GWAS Ctlgrs387906603
Max Magnitude0
ClinVar
Risk rs387906603(A;A)
Alt rs387906603(A;A)
Reference rs387906603(G;G)
Significance Pathogenic
Disease Porencephaly 2
Variation info
Gene COL4A2
CLNDBN Porencephaly 2
Reversed 0
HGVS NC_000013.10:g.111138086G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022468.28,