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rs786200923

From SNPedia

Orientationplus
Geno Mag Summary
(GTGA;GTGA) 0 common in clinvar
Make rs786200923(-;-)
Make rs786200923(-;GAGT)
Make rs786200923(GAGT;GAGT)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position134835207
GeneCOL5A1, LOC101448202
is asnp
is mentioned by
dbSNPrs786200923
ebirs786200923
HLIrs786200923
Exacrs786200923
Varsomers786200923
Maprs786200923
PheGenIrs786200923
hapmaprs786200923
1000 genomesrs786200923
hgdprs786200923
ensemblrs786200923
gopubmedrs786200923
geneviewrs786200923
scholarrs786200923
googlers786200923
pharmgkbrs786200923
gwascentralrs786200923
openSNPrs786200923
23andMers786200923
23andMe allrs786200923
SNP Nexus

SNPshotrs786200923
SNPdbers786200923
MSV3drs786200923
GWAS Ctlgrs786200923
Max Magnitude0
ClinVar
Risk rs786200923(;)
Alt rs786200923(;)
Reference rs786200923(GTGA;GTGA)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000009.11:g.137727053_137727056delGAGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000018724.28,