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rs587779671

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779671(A;A)
Make rs587779671(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988139
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779671
ebirs587779671
HLIrs587779671
Exacrs587779671
Varsomers587779671
Maprs587779671
PheGenIrs587779671
hapmaprs587779671
1000 genomesrs587779671
hgdprs587779671
ensemblrs587779671
gopubmedrs587779671
geneviewrs587779671
scholarrs587779671
googlers587779671
pharmgkbrs587779671
gwascentralrs587779671
openSNPrs587779671
23andMers587779671
23andMe allrs587779671
SNP Nexus

SNPshotrs587779671
SNPdbers587779671
MSV3drs587779671
GWAS Ctlgrs587779671
Max Magnitude0
ClinVar
Risk rs587779671(A,T;A,T)
Alt rs587779671(A,T;A,T)
Reference rs587779671(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.189852865G>A; NC_000002.11:g.189852865G>T
CLNSRC
CLNACC RCV000087663.1, RCV000087731.1,