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rs587779663

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779663(A;A)
Make rs587779663(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189001451
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779663
ebirs587779663
HLIrs587779663
Exacrs587779663
Varsomers587779663
Maprs587779663
PheGenIrs587779663
hapmaprs587779663
1000 genomesrs587779663
hgdprs587779663
ensemblrs587779663
gopubmedrs587779663
geneviewrs587779663
scholarrs587779663
googlers587779663
pharmgkbrs587779663
gwascentralrs587779663
openSNPrs587779663
23andMers587779663
23andMe allrs587779663
SNP Nexus

SNPshotrs587779663
SNPdbers587779663
MSV3drs587779663
GWAS Ctlgrs587779663
Max Magnitude0
ClinVar
Risk rs587779663(A;A)
Alt rs587779663(A;A)
Reference rs587779663(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.189866177G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087648.1,