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rs587779483

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779483(G;T)
Make rs587779483(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004046
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779483
ebirs587779483
HLIrs587779483
Exacrs587779483
Varsomers587779483
Maprs587779483
PheGenIrs587779483
hapmaprs587779483
1000 genomesrs587779483
hgdprs587779483
ensemblrs587779483
gopubmedrs587779483
geneviewrs587779483
scholarrs587779483
googlers587779483
pharmgkbrs587779483
gwascentralrs587779483
openSNPrs587779483
23andMers587779483
23andMe allrs587779483
SNP Nexus

SNPshotrs587779483
SNPdbers587779483
MSV3drs587779483
GWAS Ctlgrs587779483
Max Magnitude0
ClinVar
Risk rs587779483(T;T)
Alt rs587779483(T;T)
Reference rs587779483(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.189868772G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087415.1,