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rs587779454

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779454(A;A)
Make rs587779454(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188998684
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779454
ebirs587779454
HLIrs587779454
Exacrs587779454
Varsomers587779454
Maprs587779454
PheGenIrs587779454
hapmaprs587779454
1000 genomesrs587779454
hgdprs587779454
ensemblrs587779454
gopubmedrs587779454
geneviewrs587779454
scholarrs587779454
googlers587779454
pharmgkbrs587779454
gwascentralrs587779454
openSNPrs587779454
23andMers587779454
23andMe allrs587779454
SNP Nexus

SNPshotrs587779454
SNPdbers587779454
MSV3drs587779454
GWAS Ctlgrs587779454
Max Magnitude0
ClinVar
Risk rs587779454(A,T;A,T)
Alt rs587779454(A,T;A,T)
Reference rs587779454(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome not provided
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4 not provided
Reversed 0
HGVS NC_000002.11:g.189863410G>A; NC_000002.11:g.189863410G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087382.1, RCV000087672.1, RCV000181091.1,