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rs1060500203

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500203(G;T)
Make rs1060500203(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position189007501
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs1060500203
dbSNP (old)rs1060500203
ClinGenrs1060500203
ebirs1060500203
HLIrs1060500203
Exacrs1060500203
Gnomadrs1060500203
Varsomers1060500203
Maprs1060500203
PheGenIrs1060500203
Biobankrs1060500203
1000 genomesrs1060500203
hgdprs1060500203
ensemblrs1060500203
gopubmedrs1060500203
geneviewrs1060500203
scholarrs1060500203
googlers1060500203
pharmgkbrs1060500203
gwascentralrs1060500203
openSNPrs1060500203
23andMers1060500203
23andMe allrs1060500203
SNPshotrs1060500203
SNPdbers1060500203
MSV3drs1060500203
GWAS Ctlgrs1060500203
Max Magnitude0
ClinVar
Risk rs1060500203(T;T)
Alt rs1060500203(T;T)
Reference Rs1060500203(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.189872227G>T
CLNSRC
CLNACC RCV000461180.1,