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rs786205100

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205100(-;-)
Make rs786205100(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position134812612
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs786205100
ebirs786205100
HLIrs786205100
Exacrs786205100
Varsomers786205100
Maprs786205100
PheGenIrs786205100
hapmaprs786205100
1000 genomesrs786205100
hgdprs786205100
ensemblrs786205100
gopubmedrs786205100
geneviewrs786205100
scholarrs786205100
googlers786205100
pharmgkbrs786205100
gwascentralrs786205100
openSNPrs786205100
23andMers786205100
23andMe allrs786205100
SNP Nexus

SNPshotrs786205100
SNPdbers786205100
MSV3drs786205100
GWAS Ctlgrs786205100
Max Magnitude0
ClinVar
Risk rs786205100(;)
Alt rs786205100(;)
Reference rs786205100(C;C)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000009.11:g.137704458delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000018730.24,