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rs587779462

From SNPedia

Orientationplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs587779462(-;-)
Make rs587779462(-;AA)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188997351
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779462
ebirs587779462
HLIrs587779462
Exacrs587779462
Varsomers587779462
Maprs587779462
PheGenIrs587779462
hapmaprs587779462
1000 genomesrs587779462
hgdprs587779462
ensemblrs587779462
gopubmedrs587779462
geneviewrs587779462
scholarrs587779462
googlers587779462
pharmgkbrs587779462
gwascentralrs587779462
openSNPrs587779462
23andMers587779462
23andMe allrs587779462
SNP Nexus

SNPshotrs587779462
SNPdbers587779462
MSV3drs587779462
GWAS Ctlgrs587779462
Max Magnitude0
ClinVar
Risk rs587779462(;)
Alt rs587779462(;)
Reference rs587779462(AA;AA)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189862077_189862078delAA
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087391.1,