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rs587779443

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779443(A;A)
Make rs587779443(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188993460
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779443
ebirs587779443
HLIrs587779443
Exacrs587779443
Varsomers587779443
Maprs587779443
PheGenIrs587779443
hapmaprs587779443
1000 genomesrs587779443
hgdprs587779443
ensemblrs587779443
gopubmedrs587779443
geneviewrs587779443
scholarrs587779443
googlers587779443
pharmgkbrs587779443
gwascentralrs587779443
openSNPrs587779443
23andMers587779443
23andMe allrs587779443
SNP Nexus

SNPshotrs587779443
SNPdbers587779443
MSV3drs587779443
GWAS Ctlgrs587779443
Max Magnitude0
ClinVar
Risk rs587779443(A,T;A,T)
Alt rs587779443(A,T;A,T)
Reference rs587779443(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.189858186G>A; NC_000002.11:g.189858186G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018743.28, RCV000087596.1,