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rs587779647

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587779647(-;-)
Make rs587779647(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189010343
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779647
ebirs587779647
HLIrs587779647
Exacrs587779647
Varsomers587779647
Maprs587779647
PheGenIrs587779647
hapmaprs587779647
1000 genomesrs587779647
hgdprs587779647
ensemblrs587779647
gopubmedrs587779647
geneviewrs587779647
scholarrs587779647
googlers587779647
pharmgkbrs587779647
gwascentralrs587779647
openSNPrs587779647
23andMers587779647
23andMe allrs587779647
SNP Nexus

SNPshotrs587779647
SNPdbers587779647
MSV3drs587779647
GWAS Ctlgrs587779647
Max Magnitude0
ClinVar
Risk rs587779647(;)
Alt rs587779647(;)
Reference rs587779647(A;A)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189875069delA
CLNSRC
CLNACC RCV000087621.1,