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rs387906557

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906557(C;C)
Make rs387906557(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position188985737
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs387906557
ebirs387906557
HLIrs387906557
Exacrs387906557
Varsomers387906557
Maprs387906557
PheGenIrs387906557
hapmaprs387906557
1000 genomesrs387906557
hgdprs387906557
ensemblrs387906557
gopubmedrs387906557
geneviewrs387906557
scholarrs387906557
googlers387906557
pharmgkbrs387906557
gwascentralrs387906557
openSNPrs387906557
23andMers387906557
23andMe allrs387906557
SNP Nexus

SNPshotrs387906557
SNPdbers387906557
MSV3drs387906557
GWAS Ctlgrs387906557
Max Magnitude0
ClinVar
Risk rs387906557(C;C)
Alt rs387906557(C;C)
Reference rs387906557(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189850463G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018759.29,