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rs587779448

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779448(A;A)
Make rs587779448(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189007943
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779448
ebirs587779448
HLIrs587779448
Exacrs587779448
Varsomers587779448
Maprs587779448
PheGenIrs587779448
hapmaprs587779448
1000 genomesrs587779448
hgdprs587779448
ensemblrs587779448
gopubmedrs587779448
geneviewrs587779448
scholarrs587779448
googlers587779448
pharmgkbrs587779448
gwascentralrs587779448
openSNPrs587779448
23andMers587779448
23andMe allrs587779448
SNP Nexus

SNPshotrs587779448
SNPdbers587779448
MSV3drs587779448
GWAS Ctlgrs587779448
Max Magnitude0
ClinVar
Risk rs587779448(A;A)
Alt rs587779448(A;A)
Reference rs587779448(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.189872669G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087374.1,