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rs786205102

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;G) 5.5 Ehlers-Danlos Syndrome (EDS) classic type
(G;G) 0 common in clinvar
(I;I) 0 common genotype


Make rs786205102(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position134818847
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs786205102
dbSNP (classic)rs786205102
ClinGenrs786205102
ebirs786205102
HLIrs786205102
Exacrs786205102
Gnomadrs786205102
Varsomers786205102
LitVarrs786205102
Maprs786205102
PheGenIrs786205102
Biobankrs786205102
1000 genomesrs786205102
hgdprs786205102
ensemblrs786205102
geneviewrs786205102
scholarrs786205102
googlers786205102
pharmgkbrs786205102
gwascentralrs786205102
openSNPrs786205102
23andMers786205102
SNPshotrs786205102
SNPdbers786205102
MSV3drs786205102
GWAS Ctlgrs786205102
Max Magnitude5.5
ClinVar
Risk rs786205102(-;-)
Alt rs786205102(-;-)
Reference Rs786205102(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.137710693delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000018733.24,