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rs587779567

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779567(A;A)
Make rs587779567(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004266
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779567
ebirs587779567
HLIrs587779567
Exacrs587779567
Varsomers587779567
Maprs587779567
PheGenIrs587779567
hapmaprs587779567
1000 genomesrs587779567
hgdprs587779567
ensemblrs587779567
gopubmedrs587779567
geneviewrs587779567
scholarrs587779567
googlers587779567
pharmgkbrs587779567
gwascentralrs587779567
openSNPrs587779567
23andMers587779567
23andMe allrs587779567
SNP Nexus

SNPshotrs587779567
SNPdbers587779567
MSV3drs587779567
GWAS Ctlgrs587779567
Max Magnitude0
ClinVar
Risk rs587779567(A;A)
Alt rs587779567(A;A)
Reference rs587779567(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.189868992G>A
CLNSRC
CLNACC RCV000087516.1,