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rs587779646

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587779646(C;T)
Make rs587779646(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008113
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779646
ebirs587779646
HLIrs587779646
Exacrs587779646
Varsomers587779646
Maprs587779646
PheGenIrs587779646
hapmaprs587779646
1000 genomesrs587779646
hgdprs587779646
ensemblrs587779646
gopubmedrs587779646
geneviewrs587779646
scholarrs587779646
googlers587779646
pharmgkbrs587779646
gwascentralrs587779646
openSNPrs587779646
23andMers587779646
23andMe allrs587779646
SNP Nexus

SNPshotrs587779646
SNPdbers587779646
MSV3drs587779646
GWAS Ctlgrs587779646
Max Magnitude0
ClinVar
Risk rs587779646(T;T)
Alt rs587779646(T;T)
Reference rs587779646(C;C)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189872839C>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087620.1,