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rs786200922

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786200922(G;T)
Make rs786200922(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position134814039
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs786200922
ebirs786200922
HLIrs786200922
Exacrs786200922
Varsomers786200922
Maprs786200922
PheGenIrs786200922
hapmaprs786200922
1000 genomesrs786200922
hgdprs786200922
ensemblrs786200922
gopubmedrs786200922
geneviewrs786200922
scholarrs786200922
googlers786200922
pharmgkbrs786200922
gwascentralrs786200922
openSNPrs786200922
23andMers786200922
23andMe allrs786200922
SNP Nexus

SNPshotrs786200922
SNPdbers786200922
MSV3drs786200922
GWAS Ctlgrs786200922
Max Magnitude0
ClinVar
Risk rs786200922(T;T)
Alt rs786200922(T;T)
Reference rs786200922(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type
Reversed 0
HGVS NC_000009.11:g.137705885G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018723.28,