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rs587779714

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779714(A;A)
Make rs587779714(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988091
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779714
ebirs587779714
HLIrs587779714
Exacrs587779714
Varsomers587779714
Maprs587779714
PheGenIrs587779714
hapmaprs587779714
1000 genomesrs587779714
hgdprs587779714
ensemblrs587779714
gopubmedrs587779714
geneviewrs587779714
scholarrs587779714
googlers587779714
pharmgkbrs587779714
gwascentralrs587779714
openSNPrs587779714
23andMers587779714
23andMe allrs587779714
SNP Nexus

SNPshotrs587779714
SNPdbers587779714
MSV3drs587779714
GWAS Ctlgrs587779714
Max Magnitude0
ClinVar
Risk rs587779714(A;A)
Alt rs587779714(A;A)
Reference rs587779714(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.189852817G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087722.1,