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rs587779444

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779444(A;A)
Make rs587779444(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189007939
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779444
ebirs587779444
HLIrs587779444
Exacrs587779444
Varsomers587779444
Maprs587779444
PheGenIrs587779444
hapmaprs587779444
1000 genomesrs587779444
hgdprs587779444
ensemblrs587779444
gopubmedrs587779444
geneviewrs587779444
scholarrs587779444
googlers587779444
pharmgkbrs587779444
gwascentralrs587779444
openSNPrs587779444
23andMers587779444
23andMe allrs587779444
SNP Nexus

SNPshotrs587779444
SNPdbers587779444
MSV3drs587779444
GWAS Ctlgrs587779444
Max Magnitude0
ClinVar
Risk rs587779444(A,C,T;A,C,T)
Alt rs587779444(A,C,T;A,C,T)
Reference rs587779444(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.189872665G>A; NC_000002.11:g.189872665G>C; NC_000002.11:g.189872665G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087369.1, RCV000087618.1, RCV000087719.1,