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rs1060502250

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTC;CTC) 0 common in clinvar
Make rs1060502250(-;-)
Make rs1060502250(-;CCT)
Make rs1060502250(CCT;CCT)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position134834975
GeneCOL5A1, LOC101448202
is asnp
is mentioned by
dbSNPrs1060502250
dbSNP (classic)rs1060502250
ClinGenrs1060502250
ebirs1060502250
HLIrs1060502250
Exacrs1060502250
Gnomadrs1060502250
Varsomers1060502250
LitVarrs1060502250
Maprs1060502250
PheGenIrs1060502250
Biobankrs1060502250
1000 genomesrs1060502250
hgdprs1060502250
ensemblrs1060502250
geneviewrs1060502250
scholarrs1060502250
googlers1060502250
pharmgkbrs1060502250
gwascentralrs1060502250
openSNPrs1060502250
23andMers1060502250
23andMe allrs1060502250
SNPshotrs1060502250
SNPdbers1060502250
MSV3drs1060502250
GWAS Ctlgrs1060502250
Max Magnitude0
ClinVar
Risk rs1060502250(-;-)
Alt rs1060502250(-;-)
Reference Rs1060502250(CTC;CTC)
Significance Probable-Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000009.11:g.137726821_137726823delCCT
CLNSRC
CLNACC RCV000457411.1,