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rs587779617

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779617(A;A)
Make rs587779617(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004256
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779617
ebirs587779617
HLIrs587779617
Exacrs587779617
Varsomers587779617
Maprs587779617
PheGenIrs587779617
hapmaprs587779617
1000 genomesrs587779617
hgdprs587779617
ensemblrs587779617
gopubmedrs587779617
geneviewrs587779617
scholarrs587779617
googlers587779617
pharmgkbrs587779617
gwascentralrs587779617
openSNPrs587779617
23andMers587779617
23andMe allrs587779617
SNP Nexus

SNPshotrs587779617
SNPdbers587779617
MSV3drs587779617
GWAS Ctlgrs587779617
Max Magnitude0
ClinVar
Risk rs587779617(A;A)
Alt rs587779617(A;A)
Reference rs587779617(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.189868982G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087575.1,