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rs1060500200

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060500200(-;-)
Make rs1060500200(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position188984761
GeneCOL3A1, LOC105373791
is asnp
is mentioned by
dbSNPrs1060500200
dbSNP (old)rs1060500200
ClinGenrs1060500200
ebirs1060500200
HLIrs1060500200
Exacrs1060500200
Gnomadrs1060500200
Varsomers1060500200
LitVarrs1060500200
Maprs1060500200
PheGenIrs1060500200
Biobankrs1060500200
1000 genomesrs1060500200
hgdprs1060500200
ensemblrs1060500200
gopubmedrs1060500200
geneviewrs1060500200
scholarrs1060500200
googlers1060500200
pharmgkbrs1060500200
gwascentralrs1060500200
openSNPrs1060500200
23andMers1060500200
23andMe allrs1060500200
SNPshotrs1060500200
SNPdbers1060500200
MSV3drs1060500200
GWAS Ctlgrs1060500200
Max Magnitude0
ClinVar
Risk rs1060500200(-;-)
Alt rs1060500200(-;-)
Reference Rs1060500200(T;T)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189849487delT
CLNSRC
CLNACC RCV000474877.1,