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rs587779707

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779707(-;-)
Make rs587779707(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188985744
GeneCOL3A1, LOC105373791
is asnp
is mentioned by
dbSNPrs587779707
ebirs587779707
HLIrs587779707
Exacrs587779707
Varsomers587779707
Maprs587779707
PheGenIrs587779707
hapmaprs587779707
1000 genomesrs587779707
hgdprs587779707
ensemblrs587779707
gopubmedrs587779707
geneviewrs587779707
scholarrs587779707
googlers587779707
pharmgkbrs587779707
gwascentralrs587779707
openSNPrs587779707
23andMers587779707
23andMe allrs587779707
SNP Nexus

SNPshotrs587779707
SNPdbers587779707
MSV3drs587779707
GWAS Ctlgrs587779707
Max Magnitude0
ClinVar
Risk rs587779707(;)
Alt rs587779707(;)
Reference rs587779707(C;C)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189850470delC
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087713.1,