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rs1060500204

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500204(C;C)
Make rs1060500204(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position188994540
GeneCOL3A1, MIR3606
is asnp
is mentioned by
dbSNPrs1060500204
dbSNP (classic)rs1060500204
biobankenginers1060500204
ClinGenrs1060500204
ebirs1060500204
HLIrs1060500204
Exacrs1060500204
Gnomadrs1060500204
Varsomers1060500204
LitVarrs1060500204
Maprs1060500204
PheGenIrs1060500204
Biobankrs1060500204
1000 genomesrs1060500204
hgdprs1060500204
ensemblrs1060500204
geneviewrs1060500204
scholarrs1060500204
googlers1060500204
pharmgkbrs1060500204
gwascentralrs1060500204
openSNPrs1060500204
23andMers1060500204
23andMe allrs1060500204
SNPshotrs1060500204
SNPdbers1060500204
MSV3drs1060500204
GWAS Ctlgrs1060500204
Max Magnitude0
ClinVar
Risk rs1060500204(C;C)
Alt rs1060500204(C;C)
Reference Rs1060500204(G;G)
Significance Probable-Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1 MIR3606
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189859266G>C
CLNSRC
CLNACC RCV000468152.1,