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rs1060500194

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500194(C;C)
Make rs1060500194(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position188994235
GeneCOL3A1, MIR3606
is asnp
is mentioned by
dbSNPrs1060500194
dbSNP (old)rs1060500194
ClinGenrs1060500194
ebirs1060500194
HLIrs1060500194
Exacrs1060500194
Gnomadrs1060500194
Varsomers1060500194
Maprs1060500194
PheGenIrs1060500194
Biobankrs1060500194
1000 genomesrs1060500194
hgdprs1060500194
ensemblrs1060500194
gopubmedrs1060500194
geneviewrs1060500194
scholarrs1060500194
googlers1060500194
pharmgkbrs1060500194
gwascentralrs1060500194
openSNPrs1060500194
23andMers1060500194
23andMe allrs1060500194
SNPshotrs1060500194
SNPdbers1060500194
MSV3drs1060500194
GWAS Ctlgrs1060500194
Max Magnitude0
ClinVar
Risk rs1060500194(C;C)
Alt rs1060500194(C;C)
Reference Rs1060500194(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.189858961G>C
CLNSRC
CLNACC RCV000460412.1,