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rs587779624

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779624(G;T)
Make rs587779624(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188989414
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779624
ebirs587779624
HLIrs587779624
Exacrs587779624
Varsomers587779624
Maprs587779624
PheGenIrs587779624
hapmaprs587779624
1000 genomesrs587779624
hgdprs587779624
ensemblrs587779624
gopubmedrs587779624
geneviewrs587779624
scholarrs587779624
googlers587779624
pharmgkbrs587779624
gwascentralrs587779624
openSNPrs587779624
23andMers587779624
23andMe allrs587779624
SNP Nexus

SNPshotrs587779624
SNPdbers587779624
MSV3drs587779624
GWAS Ctlgrs587779624
Max Magnitude0
ClinVar
Risk rs587779624(T;T)
Alt rs587779624(T;T)
Reference rs587779624(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.189854140G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087585.1,