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rs587779427

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779427(G;T)
Make rs587779427(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188991005
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779427
ebirs587779427
HLIrs587779427
Exacrs587779427
Varsomers587779427
Maprs587779427
PheGenIrs587779427
hapmaprs587779427
1000 genomesrs587779427
hgdprs587779427
ensemblrs587779427
gopubmedrs587779427
geneviewrs587779427
scholarrs587779427
googlers587779427
pharmgkbrs587779427
gwascentralrs587779427
openSNPrs587779427
23andMers587779427
23andMe allrs587779427
SNP Nexus

SNPshotrs587779427
SNPdbers587779427
MSV3drs587779427
GWAS Ctlgrs587779427
Max Magnitude0
ClinVar
Risk rs587779427(T;T)
Alt rs587779427(T;T)
Reference rs587779427(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.189855731G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087350.1,