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rs587779420

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779420(A;A)
Make rs587779420(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988100
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779420
ebirs587779420
HLIrs587779420
Exacrs587779420
Varsomers587779420
Maprs587779420
PheGenIrs587779420
hapmaprs587779420
1000 genomesrs587779420
hgdprs587779420
ensemblrs587779420
gopubmedrs587779420
geneviewrs587779420
scholarrs587779420
googlers587779420
pharmgkbrs587779420
gwascentralrs587779420
openSNPrs587779420
23andMers587779420
23andMe allrs587779420
SNP Nexus

SNPshotrs587779420
SNPdbers587779420
MSV3drs587779420
GWAS Ctlgrs587779420
Max Magnitude0
ClinVar
Risk rs587779420(A,C;A,C)
Alt rs587779420(A,C;A,C)
Reference rs587779420(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.189852826G>A; NC_000002.11:g.189852826G>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087342.1, RCV000087622.1,