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rs587779576

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779576(A;A)
Make rs587779576(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189005405
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779576
ebirs587779576
HLIrs587779576
Exacrs587779576
Varsomers587779576
Maprs587779576
PheGenIrs587779576
hapmaprs587779576
1000 genomesrs587779576
hgdprs587779576
ensemblrs587779576
gopubmedrs587779576
geneviewrs587779576
scholarrs587779576
googlers587779576
pharmgkbrs587779576
gwascentralrs587779576
openSNPrs587779576
23andMers587779576
23andMe allrs587779576
SNP Nexus

SNPshotrs587779576
SNPdbers587779576
MSV3drs587779576
GWAS Ctlgrs587779576
Max Magnitude0
ClinVar
Risk rs587779576(A;A)
Alt rs587779576(A;A)
Reference rs587779576(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.189870131G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087525.1,