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rs587779492

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779492(G;T)
Make rs587779492(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189001407
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779492
ebirs587779492
HLIrs587779492
Exacrs587779492
Varsomers587779492
Maprs587779492
PheGenIrs587779492
hapmaprs587779492
1000 genomesrs587779492
hgdprs587779492
ensemblrs587779492
gopubmedrs587779492
geneviewrs587779492
scholarrs587779492
googlers587779492
pharmgkbrs587779492
gwascentralrs587779492
openSNPrs587779492
23andMers587779492
23andMe allrs587779492
SNP Nexus

SNPshotrs587779492
SNPdbers587779492
MSV3drs587779492
GWAS Ctlgrs587779492
Max Magnitude0
ClinVar
Risk rs587779492(T;T)
Alt rs587779492(T;T)
Reference rs587779492(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.189866133G>T
CLNSRC
CLNACC RCV000087425.1,