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rs587779501

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779501(A;A)
Make rs587779501(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006995
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779501
ebirs587779501
HLIrs587779501
Exacrs587779501
Varsomers587779501
Maprs587779501
PheGenIrs587779501
hapmaprs587779501
1000 genomesrs587779501
hgdprs587779501
ensemblrs587779501
gopubmedrs587779501
geneviewrs587779501
scholarrs587779501
googlers587779501
pharmgkbrs587779501
gwascentralrs587779501
openSNPrs587779501
23andMers587779501
23andMe allrs587779501
SNP Nexus

SNPshotrs587779501
SNPdbers587779501
MSV3drs587779501
GWAS Ctlgrs587779501
Max Magnitude0
ClinVar
Risk rs587779501(A;A)
Alt rs587779501(A;A)
Reference rs587779501(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.189871721G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087435.1,