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rs587779481

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779481(C;C)
Make rs587779481(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188991669
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779481
ebirs587779481
HLIrs587779481
Exacrs587779481
Varsomers587779481
Maprs587779481
PheGenIrs587779481
hapmaprs587779481
1000 genomesrs587779481
hgdprs587779481
ensemblrs587779481
gopubmedrs587779481
geneviewrs587779481
scholarrs587779481
googlers587779481
pharmgkbrs587779481
gwascentralrs587779481
openSNPrs587779481
23andMers587779481
23andMe allrs587779481
SNP Nexus

SNPshotrs587779481
SNPdbers587779481
MSV3drs587779481
GWAS Ctlgrs587779481
Max Magnitude0
ClinVar
Risk rs587779481(C;C)
Alt rs587779481(C;C)
Reference rs587779481(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.189856395G>C
CLNSRC
CLNACC RCV000087413.1,