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rs397509377

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397509377(-;-)
Make rs397509377(-;T)
Make rs397509377(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position188987090
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs397509377
ebirs397509377
HLIrs397509377
Exacrs397509377
Varsomers397509377
Maprs397509377
PheGenIrs397509377
hapmaprs397509377
1000 genomesrs397509377
hgdprs397509377
ensemblrs397509377
gopubmedrs397509377
geneviewrs397509377
scholarrs397509377
googlers397509377
pharmgkbrs397509377
gwascentralrs397509377
openSNPrs397509377
23andMers397509377
23andMe allrs397509377
SNP Nexus

SNPshotrs397509377
SNPdbers397509377
MSV3drs397509377
GWAS Ctlgrs397509377
Max Magnitude0
ClinVar
Risk rs397509377(T;T)
Alt rs397509377(T;T)
Reference rs397509377(;)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189851816dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000022485.28,