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rs587779700

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCTCCCAGGG;TCTCCCAGGG) 0 common in clinvar
Make rs587779700(-;-)
Make rs587779700(-;TCCCAGGGTC)
Make rs587779700(TCCCAGGGTC;TCCCAGGGTC)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188998668
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779700
dbSNP (old)rs587779700
ClinGenrs587779700
ebirs587779700
HLIrs587779700
Exacrs587779700
Varsomers587779700
Maprs587779700
PheGenIrs587779700
Biobankrs587779700
1000 genomesrs587779700
hgdprs587779700
ensemblrs587779700
gopubmedrs587779700
geneviewrs587779700
scholarrs587779700
googlers587779700
pharmgkbrs587779700
gwascentralrs587779700
openSNPrs587779700
23andMers587779700
23andMe allrs587779700
SNP Nexus

SNPshotrs587779700
SNPdbers587779700
MSV3drs587779700
GWAS Ctlgrs587779700
Max Magnitude0
ClinVar
Risk rs587779700(-;-)
Alt rs587779700(-;-)
Reference Rs587779700(TCTCCCAGGG;TCTCCCAGGG)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189863394_189863403delTCCCAGGGTC
CLNSRC
CLNACC RCV000087701.1,