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rs587779475

From SNPedia

Orientationplus
Geno Mag Summary
(AACCAGTA;AACCAGTA) 0 common in clinvar
Make rs587779475(-;-)
Make rs587779475(-;ACCAGTAA)
Make rs587779475(ACCAGTAA;ACCAGTAA)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188998316
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779475
ebirs587779475
HLIrs587779475
Exacrs587779475
Varsomers587779475
Maprs587779475
PheGenIrs587779475
hapmaprs587779475
1000 genomesrs587779475
hgdprs587779475
ensemblrs587779475
gopubmedrs587779475
geneviewrs587779475
scholarrs587779475
googlers587779475
pharmgkbrs587779475
gwascentralrs587779475
openSNPrs587779475
23andMers587779475
23andMe allrs587779475
SNP Nexus

SNPshotrs587779475
SNPdbers587779475
MSV3drs587779475
GWAS Ctlgrs587779475
Max Magnitude0
ClinVar
Risk rs587779475(;)
Alt rs587779475(;)
Reference rs587779475(AACCAGTA;AACCAGTA)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189863042_189863049delACCAGTAA
CLNSRC
CLNACC RCV000087406.1,