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rs587779431

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779431(A;A)
Make rs587779431(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008108
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779431
ebirs587779431
HLIrs587779431
Exacrs587779431
Varsomers587779431
Maprs587779431
PheGenIrs587779431
hapmaprs587779431
1000 genomesrs587779431
hgdprs587779431
ensemblrs587779431
gopubmedrs587779431
geneviewrs587779431
scholarrs587779431
googlers587779431
pharmgkbrs587779431
gwascentralrs587779431
openSNPrs587779431
23andMers587779431
23andMe allrs587779431
SNP Nexus

SNPshotrs587779431
SNPdbers587779431
MSV3drs587779431
GWAS Ctlgrs587779431
Max Magnitude0
ClinVar
Risk rs587779431(A,T;A,T)
Alt rs587779431(A,T;A,T)
Reference rs587779431(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.189872834G>A; NC_000002.11:g.189872834G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087355.1, RCV000087401.1,