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rs587779642

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779642(A;A)
Make rs587779642(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189003010
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779642
ebirs587779642
HLIrs587779642
Exacrs587779642
Varsomers587779642
Maprs587779642
PheGenIrs587779642
hapmaprs587779642
1000 genomesrs587779642
hgdprs587779642
ensemblrs587779642
gopubmedrs587779642
geneviewrs587779642
scholarrs587779642
googlers587779642
pharmgkbrs587779642
gwascentralrs587779642
openSNPrs587779642
23andMers587779642
23andMe allrs587779642
SNP Nexus

SNPshotrs587779642
SNPdbers587779642
MSV3drs587779642
GWAS Ctlgrs587779642
Max Magnitude0
ClinVar
Risk rs587779642(A;A)
Alt rs587779642(A;A)
Reference rs587779642(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.189867736G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087612.1,