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rs1060500199

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500199(-;-)
Make rs1060500199(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position188996168
GeneCOL3A1, MIR3606
is asnp
is mentioned by
dbSNPrs1060500199
dbSNP (old)rs1060500199
ClinGenrs1060500199
ebirs1060500199
HLIrs1060500199
Exacrs1060500199
Gnomadrs1060500199
Varsomers1060500199
Maprs1060500199
PheGenIrs1060500199
Biobankrs1060500199
1000 genomesrs1060500199
hgdprs1060500199
ensemblrs1060500199
gopubmedrs1060500199
geneviewrs1060500199
scholarrs1060500199
googlers1060500199
pharmgkbrs1060500199
gwascentralrs1060500199
openSNPrs1060500199
23andMers1060500199
23andMe allrs1060500199
SNPshotrs1060500199
SNPdbers1060500199
MSV3drs1060500199
GWAS Ctlgrs1060500199
Max Magnitude0
ClinVar
Risk rs1060500199(-;-)
Alt rs1060500199(-;-)
Reference Rs1060500199(C;C)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1 MIR3606
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189860894delC
CLNSRC
CLNACC RCV000464302.1,