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rs587779580

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779580(A;A)
Make rs587779580(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004338
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779580
dbSNP (old)rs587779580
ClinGenrs587779580
ebirs587779580
HLIrs587779580
Exacrs587779580
Gnomadrs587779580
Varsomers587779580
Maprs587779580
PheGenIrs587779580
Biobankrs587779580
1000 genomesrs587779580
hgdprs587779580
ensemblrs587779580
gopubmedrs587779580
geneviewrs587779580
scholarrs587779580
googlers587779580
pharmgkbrs587779580
gwascentralrs587779580
openSNPrs587779580
23andMers587779580
23andMe allrs587779580
SNP Nexus

SNPshotrs587779580
SNPdbers587779580
MSV3drs587779580
GWAS Ctlgrs587779580
Max Magnitude0
ClinVar
Risk rs587779580(A;A)
Alt rs587779580(A;A)
Reference Rs587779580(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.189869064G>A
CLNSRC
CLNACC RCV000087529.1,