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rs587779605

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779605(G;T)
Make rs587779605(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188990326
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779605
ebirs587779605
HLIrs587779605
Exacrs587779605
Varsomers587779605
Maprs587779605
PheGenIrs587779605
hapmaprs587779605
1000 genomesrs587779605
hgdprs587779605
ensemblrs587779605
gopubmedrs587779605
geneviewrs587779605
scholarrs587779605
googlers587779605
pharmgkbrs587779605
gwascentralrs587779605
openSNPrs587779605
23andMers587779605
23andMe allrs587779605
SNP Nexus

SNPshotrs587779605
SNPdbers587779605
MSV3drs587779605
GWAS Ctlgrs587779605
Max Magnitude0
ClinVar
Risk rs587779605(A,T;A,T)
Alt rs587779605(A,T;A,T)
Reference rs587779605(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.189855052G>A; NC_000002.11:g.189855052G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087664.1, RCV000087560.1,