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rs587779477

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779477(G;T)
Make rs587779477(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188997211
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779477
ebirs587779477
HLIrs587779477
Exacrs587779477
Varsomers587779477
Maprs587779477
PheGenIrs587779477
hapmaprs587779477
1000 genomesrs587779477
hgdprs587779477
ensemblrs587779477
gopubmedrs587779477
geneviewrs587779477
scholarrs587779477
googlers587779477
pharmgkbrs587779477
gwascentralrs587779477
openSNPrs587779477
23andMers587779477
23andMe allrs587779477
SNP Nexus

SNPshotrs587779477
SNPdbers587779477
MSV3drs587779477
GWAS Ctlgrs587779477
Max Magnitude0
ClinVar
Risk rs587779477(A,T;A,T)
Alt rs587779477(A,T;A,T)
Reference rs587779477(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.189861937G>A; NC_000002.11:g.189861937G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087470.1, RCV000087409.1,