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rs587779632

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779632(G;T)
Make rs587779632(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188995693
GeneCOL3A1, MIR3606
is asnp
is mentioned by
dbSNPrs587779632
ebirs587779632
HLIrs587779632
Exacrs587779632
Varsomers587779632
Maprs587779632
PheGenIrs587779632
hapmaprs587779632
1000 genomesrs587779632
hgdprs587779632
ensemblrs587779632
gopubmedrs587779632
geneviewrs587779632
scholarrs587779632
googlers587779632
pharmgkbrs587779632
gwascentralrs587779632
openSNPrs587779632
23andMers587779632
23andMe allrs587779632
SNP Nexus

SNPshotrs587779632
SNPdbers587779632
MSV3drs587779632
GWAS Ctlgrs587779632
Max Magnitude0
ClinVar
Risk rs587779632(T;T)
Alt rs587779632(T;T)
Reference rs587779632(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1 MIR3606
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189860419G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087601.1,