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rs587779618

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779618(C;C)
Make rs587779618(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189011772
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779618
ebirs587779618
HLIrs587779618
Exacrs587779618
Varsomers587779618
Maprs587779618
PheGenIrs587779618
hapmaprs587779618
1000 genomesrs587779618
hgdprs587779618
ensemblrs587779618
gopubmedrs587779618
geneviewrs587779618
scholarrs587779618
googlers587779618
pharmgkbrs587779618
gwascentralrs587779618
openSNPrs587779618
23andMers587779618
23andMe allrs587779618
SNP Nexus

SNPshotrs587779618
SNPdbers587779618
MSV3drs587779618
GWAS Ctlgrs587779618
Max Magnitude0
ClinVar
Risk rs587779618(C;C)
Alt rs587779618(C;C)
Reference rs587779618(T;T)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189876498T>C
CLNSRC
CLNACC RCV000087576.1,