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rs786200946

From SNPedia

Orientationplus
Geno Mag Summary
(AAGT;AAGT) 0 common in clinvar
Make rs786200946(-;-)
Make rs786200946(-;TAAG)
Make rs786200946(TAAG;TAAG)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position188997755
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs786200946
ebirs786200946
HLIrs786200946
Exacrs786200946
Varsomers786200946
Maprs786200946
PheGenIrs786200946
hapmaprs786200946
1000 genomesrs786200946
hgdprs786200946
ensemblrs786200946
gopubmedrs786200946
geneviewrs786200946
scholarrs786200946
googlers786200946
pharmgkbrs786200946
gwascentralrs786200946
openSNPrs786200946
23andMers786200946
23andMe allrs786200946
SNP Nexus

SNPshotrs786200946
SNPdbers786200946
MSV3drs786200946
GWAS Ctlgrs786200946
Max Magnitude0
ClinVar
Risk rs786200946(;)
Alt rs786200946(;)
Reference rs786200946(AAGT;AAGT)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189862481_189862484delTAAG
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087595.1,