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rs587779599

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779599(A;A)
Make rs587779599(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004019
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779599
ebirs587779599
HLIrs587779599
Exacrs587779599
Varsomers587779599
Maprs587779599
PheGenIrs587779599
hapmaprs587779599
1000 genomesrs587779599
hgdprs587779599
ensemblrs587779599
gopubmedrs587779599
geneviewrs587779599
scholarrs587779599
googlers587779599
pharmgkbrs587779599
gwascentralrs587779599
openSNPrs587779599
23andMers587779599
23andMe allrs587779599
SNP Nexus

SNPshotrs587779599
SNPdbers587779599
MSV3drs587779599
GWAS Ctlgrs587779599
Max Magnitude0
ClinVar
Risk rs587779599(A;A)
Alt rs587779599(A;A)
Reference rs587779599(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.189868745G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087551.1,